Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154584824A=CA2480931179ADARc.3557T= (n.3557T=)
c.3693T= (p.Phe1231=)
c.3546T= (p.Phe1182=)
c.3315T= (p.Phe1105=)
c.2778T= (p.Phe926=)
c.3663T= (p.Phe1221=)
n.2456T=
c.3585T= (p.Phe1195=)
n.3648T=
c.*1138T= (n.*1138T=)
n.4399T=
c.*829T= (n.*829T=)
c.*1895T= (n.*1895T=)
n.4524T=
c.2721T= (p.Phe907=)
c.3480T= (p.Phe1160=)
c.*3185T= (n.*3185T=)
n.3331T=
c.*3263T= (n.*3263T=)
n.422T=
c.3570T= (p.Phe1190=)
c.3528T= (p.Phe1176=)
c.3792T= (p.Phe1264=)
c.3714T= (p.Phe1238=)
c.3681T= (p.Phe1227=)
c.3690T= (p.Phe1230=)
c.2700T= (p.Phe900=)
1g.154584824A>CCA342634444ADARc.3557T>G (n.3557T>G)
c.3693T>G (p.Phe1231Leu)
c.3546T>G (p.Phe1182Leu)
c.3315T>G (p.Phe1105Leu)
c.2778T>G (p.Phe926Leu)
c.3663T>G (p.Phe1221Leu)
n.2456T>G
c.3585T>G (p.Phe1195Leu)
n.3648T>G
c.*1138T>G (n.*1138T>G)
n.4399T>G
c.*829T>G (n.*829T>G)
c.*1895T>G (n.*1895T>G)
n.4524T>G
c.2721T>G (p.Phe907Leu)
c.3480T>G (p.Phe1160Leu)
c.*3185T>G (n.*3185T>G)
n.3331T>G
c.*3263T>G (n.*3263T>G)
n.422T>G
c.3570T>G (p.Phe1190Leu)
c.3528T>G (p.Phe1176Leu)
c.3792T>G (p.Phe1264Leu)
c.3714T>G (p.Phe1238Leu)
c.3681T>G (p.Phe1227Leu)
c.3690T>G (p.Phe1230Leu)
c.2700T>G (p.Phe900Leu)
1g.154584824A>GCA30848545ADARc.3557T>C (n.3557T>C)
c.3693T>C (p.Phe1231=)
c.3546T>C (p.Phe1182=)
c.3315T>C (p.Phe1105=)
c.2778T>C (p.Phe926=)
c.3663T>C (p.Phe1221=)
n.2456T>C
c.3585T>C (p.Phe1195=)
n.3648T>C
c.*1138T>C (n.*1138T>C)
n.4399T>C
c.*829T>C (n.*829T>C)
c.*1895T>C (n.*1895T>C)
n.4524T>C
c.2721T>C (p.Phe907=)
c.3480T>C (p.Phe1160=)
c.*3185T>C (n.*3185T>C)
n.3331T>C
c.*3263T>C (n.*3263T>C)
n.422T>C
c.3570T>C (p.Phe1190=)
c.3528T>C (p.Phe1176=)
c.3792T>C (p.Phe1264=)
c.3714T>C (p.Phe1238=)
c.3681T>C (p.Phe1227=)
c.3690T>C (p.Phe1230=)
c.2700T>C (p.Phe900=)
 ClinVar dbSNP
1g.154584824A>TCA342634445ADARc.3557T>A (n.3557T>A)
c.3693T>A (p.Phe1231Leu)
c.3546T>A (p.Phe1182Leu)
c.3315T>A (p.Phe1105Leu)
c.2778T>A (p.Phe926Leu)
c.3663T>A (p.Phe1221Leu)
n.2456T>A
c.3585T>A (p.Phe1195Leu)
n.3648T>A
c.*1138T>A (n.*1138T>A)
n.4399T>A
c.*829T>A (n.*829T>A)
c.*1895T>A (n.*1895T>A)
n.4524T>A
c.2721T>A (p.Phe907Leu)
c.3480T>A (p.Phe1160Leu)
c.*3185T>A (n.*3185T>A)
n.3331T>A
c.*3263T>A (n.*3263T>A)
n.422T>A
c.3570T>A (p.Phe1190Leu)
c.3528T>A (p.Phe1176Leu)
c.3792T>A (p.Phe1264Leu)
c.3714T>A (p.Phe1238Leu)
c.3681T>A (p.Phe1227Leu)
c.3690T>A (p.Phe1230Leu)
c.2700T>A (p.Phe900Leu)
1g.154584825A>CCA342634446ADARc.3556T>G (n.3556T>G)
c.3692T>G (p.Phe1231Cys)
c.3545T>G (p.Phe1182Cys)
c.3314T>G (p.Phe1105Cys)
c.2777T>G (p.Phe926Cys)
c.3662T>G (p.Phe1221Cys)
n.2455T>G
c.3584T>G (p.Phe1195Cys)
n.3647T>G
c.*1137T>G (n.*1137T>G)
n.4398T>G
c.*828T>G (n.*828T>G)
c.*1894T>G (n.*1894T>G)
n.4523T>G
c.2720T>G (p.Phe907Cys)
c.3479T>G (p.Phe1160Cys)
c.*3184T>G (n.*3184T>G)
n.3330T>G
c.*3262T>G (n.*3262T>G)
n.421T>G
c.3569T>G (p.Phe1190Cys)
c.3527T>G (p.Phe1176Cys)
c.3791T>G (p.Phe1264Cys)
c.3713T>G (p.Phe1238Cys)
c.3680T>G (p.Phe1227Cys)
c.3689T>G (p.Phe1230Cys)
c.2699T>G (p.Phe900Cys)
1g.154584825A>GCA342634447ADARc.3556T>C (n.3556T>C)
c.3692T>C (p.Phe1231Ser)
c.3545T>C (p.Phe1182Ser)
c.3314T>C (p.Phe1105Ser)
c.2777T>C (p.Phe926Ser)
c.3662T>C (p.Phe1221Ser)
n.2455T>C
c.3584T>C (p.Phe1195Ser)
n.3647T>C
c.*1137T>C (n.*1137T>C)
n.4398T>C
c.*828T>C (n.*828T>C)
c.*1894T>C (n.*1894T>C)
n.4523T>C
c.2720T>C (p.Phe907Ser)
c.3479T>C (p.Phe1160Ser)
c.*3184T>C (n.*3184T>C)
n.3330T>C
c.*3262T>C (n.*3262T>C)
n.421T>C
c.3569T>C (p.Phe1190Ser)
c.3527T>C (p.Phe1176Ser)
c.3791T>C (p.Phe1264Ser)
c.3713T>C (p.Phe1238Ser)
c.3680T>C (p.Phe1227Ser)
c.3689T>C (p.Phe1230Ser)
c.2699T>C (p.Phe900Ser)
1g.154584825A>TCA342634448ADARc.3556T>A (n.3556T>A)
c.3692T>A (p.Phe1231Tyr)
c.3545T>A (p.Phe1182Tyr)
c.3314T>A (p.Phe1105Tyr)
c.2777T>A (p.Phe926Tyr)
c.3662T>A (p.Phe1221Tyr)
n.2455T>A
c.3584T>A (p.Phe1195Tyr)
n.3647T>A
c.*1137T>A (n.*1137T>A)
n.4398T>A
c.*828T>A (n.*828T>A)
c.*1894T>A (n.*1894T>A)
n.4523T>A
c.2720T>A (p.Phe907Tyr)
c.3479T>A (p.Phe1160Tyr)
c.*3184T>A (n.*3184T>A)
n.3330T>A
c.*3262T>A (n.*3262T>A)
n.421T>A
c.3569T>A (p.Phe1190Tyr)
c.3527T>A (p.Phe1176Tyr)
c.3791T>A (p.Phe1264Tyr)
c.3713T>A (p.Phe1238Tyr)
c.3680T>A (p.Phe1227Tyr)
c.3689T>A (p.Phe1230Tyr)
c.2699T>A (p.Phe900Tyr)
1g.154584826A=CA2480931180ADARc.3555T= (n.3555T=)
c.3691T= (p.Phe1231=)
c.3544T= (p.Phe1182=)
c.3313T= (p.Phe1105=)
c.2776T= (p.Phe926=)
c.3661T= (p.Phe1221=)
n.2454T=
c.3583T= (p.Phe1195=)
n.3646T=
c.*1136T= (n.*1136T=)
n.4397T=
c.*827T= (n.*827T=)
c.*1893T= (n.*1893T=)
n.4522T=
c.2719T= (p.Phe907=)
c.3478T= (p.Phe1160=)
c.*3183T= (n.*3183T=)
n.3329T=
c.*3261T= (n.*3261T=)
n.420T=
c.3568T= (p.Phe1190=)
c.3526T= (p.Phe1176=)
c.3790T= (p.Phe1264=)
c.3712T= (p.Phe1238=)
c.3679T= (p.Phe1227=)
c.3688T= (p.Phe1230=)
c.2698T= (p.Phe900=)
1g.154584826A>CCA342634449ADARc.3555T>G (n.3555T>G)
c.3691T>G (p.Phe1231Val)
c.3544T>G (p.Phe1182Val)
c.3313T>G (p.Phe1105Val)
c.2776T>G (p.Phe926Val)
c.3661T>G (p.Phe1221Val)
n.2454T>G
c.3583T>G (p.Phe1195Val)
n.3646T>G
c.*1136T>G (n.*1136T>G)
n.4397T>G
c.*827T>G (n.*827T>G)
c.*1893T>G (n.*1893T>G)
n.4522T>G
c.2719T>G (p.Phe907Val)
c.3478T>G (p.Phe1160Val)
c.*3183T>G (n.*3183T>G)
n.3329T>G
c.*3261T>G (n.*3261T>G)
n.420T>G
c.3568T>G (p.Phe1190Val)
c.3526T>G (p.Phe1176Val)
c.3790T>G (p.Phe1264Val)
c.3712T>G (p.Phe1238Val)
c.3679T>G (p.Phe1227Val)
c.3688T>G (p.Phe1230Val)
c.2698T>G (p.Phe900Val)
1g.154584826A>GCA342634450ADARc.3555T>C (n.3555T>C)
c.3691T>C (p.Phe1231Leu)
c.3544T>C (p.Phe1182Leu)
c.3313T>C (p.Phe1105Leu)
c.2776T>C (p.Phe926Leu)
c.3661T>C (p.Phe1221Leu)
n.2454T>C
c.3583T>C (p.Phe1195Leu)
n.3646T>C
c.*1136T>C (n.*1136T>C)
n.4397T>C
c.*827T>C (n.*827T>C)
c.*1893T>C (n.*1893T>C)
n.4522T>C
c.2719T>C (p.Phe907Leu)
c.3478T>C (p.Phe1160Leu)
c.*3183T>C (n.*3183T>C)
n.3329T>C
c.*3261T>C (n.*3261T>C)
n.420T>C
c.3568T>C (p.Phe1190Leu)
c.3526T>C (p.Phe1176Leu)
c.3790T>C (p.Phe1264Leu)
c.3712T>C (p.Phe1238Leu)
c.3679T>C (p.Phe1227Leu)
c.3688T>C (p.Phe1230Leu)
c.2698T>C (p.Phe900Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.154584826A>TCA342634451ADARc.3555T>A (n.3555T>A)
c.3691T>A (p.Phe1231Ile)
c.3544T>A (p.Phe1182Ile)
c.3313T>A (p.Phe1105Ile)
c.2776T>A (p.Phe926Ile)
c.3661T>A (p.Phe1221Ile)
n.2454T>A
c.3583T>A (p.Phe1195Ile)
n.3646T>A
c.*1136T>A (n.*1136T>A)
n.4397T>A
c.*827T>A (n.*827T>A)
c.*1893T>A (n.*1893T>A)
n.4522T>A
c.2719T>A (p.Phe907Ile)
c.3478T>A (p.Phe1160Ile)
c.*3183T>A (n.*3183T>A)
n.3329T>A
c.*3261T>A (n.*3261T>A)
n.420T>A
c.3568T>A (p.Phe1190Ile)
c.3526T>A (p.Phe1176Ile)
c.3790T>A (p.Phe1264Ile)
c.3712T>A (p.Phe1238Ile)
c.3679T>A (p.Phe1227Ile)
c.3688T>A (p.Phe1230Ile)
c.2698T>A (p.Phe900Ile)
 COSMIC COSMIC
1g.154584827G>ACA421231147ADARc.3554C>T (n.3554C>T)
c.3690C>T (p.Asn1230=)
c.3543C>T (p.Asn1181=)
c.3312C>T (p.Asn1104=)
c.2775C>T (p.Asn925=)
c.3660C>T (p.Asn1220=)
n.2453C>T
c.3582C>T (p.Asn1194=)
n.3645C>T
c.*1135C>T (n.*1135C>T)
n.4396C>T
c.*826C>T (n.*826C>T)
c.*1892C>T (n.*1892C>T)
n.4521C>T
c.2718C>T (p.Asn906=)
c.3477C>T (p.Asn1159=)
c.*3182C>T (n.*3182C>T)
n.3328C>T
c.*3260C>T (n.*3260C>T)
n.419C>T
c.3567C>T (p.Asn1189=)
c.3525C>T (p.Asn1175=)
c.3789C>T (p.Asn1263=)
c.3711C>T (p.Asn1237=)
c.3678C>T (p.Asn1226=)
c.3687C>T (p.Asn1229=)
c.2697C>T (p.Asn899=)
 gnomAD v4
1g.154584827G>CCA342634453ADARc.3554C>G (n.3554C>G)
c.3690C>G (p.Asn1230Lys)
c.3543C>G (p.Asn1181Lys)
c.3312C>G (p.Asn1104Lys)
c.2775C>G (p.Asn925Lys)
c.3660C>G (p.Asn1220Lys)
n.2453C>G
c.3582C>G (p.Asn1194Lys)
n.3645C>G
c.*1135C>G (n.*1135C>G)
n.4396C>G
c.*826C>G (n.*826C>G)
c.*1892C>G (n.*1892C>G)
n.4521C>G
c.2718C>G (p.Asn906Lys)
c.3477C>G (p.Asn1159Lys)
c.*3182C>G (n.*3182C>G)
n.3328C>G
c.*3260C>G (n.*3260C>G)
n.419C>G
c.3567C>G (p.Asn1189Lys)
c.3525C>G (p.Asn1175Lys)
c.3789C>G (p.Asn1263Lys)
c.3711C>G (p.Asn1237Lys)
c.3678C>G (p.Asn1226Lys)
c.3687C>G (p.Asn1229Lys)
c.2697C>G (p.Asn899Lys)
1g.154584827G>TCA342634452ADARc.3554C>A (n.3554C>A)
c.3690C>A (p.Asn1230Lys)
c.3543C>A (p.Asn1181Lys)
c.3312C>A (p.Asn1104Lys)
c.2775C>A (p.Asn925Lys)
c.3660C>A (p.Asn1220Lys)
n.2453C>A
c.3582C>A (p.Asn1194Lys)
n.3645C>A
c.*1135C>A (n.*1135C>A)
n.4396C>A
c.*826C>A (n.*826C>A)
c.*1892C>A (n.*1892C>A)
n.4521C>A
c.2718C>A (p.Asn906Lys)
c.3477C>A (p.Asn1159Lys)
c.*3182C>A (n.*3182C>A)
n.3328C>A
c.*3260C>A (n.*3260C>A)
n.419C>A
c.3567C>A (p.Asn1189Lys)
c.3525C>A (p.Asn1175Lys)
c.3789C>A (p.Asn1263Lys)
c.3711C>A (p.Asn1237Lys)
c.3678C>A (p.Asn1226Lys)
c.3687C>A (p.Asn1229Lys)
c.2697C>A (p.Asn899Lys)
1g.154584828T>ACA342634454ADARc.3553A>T (n.3553A>T)
c.3689A>T (p.Asn1230Ile)
c.3542A>T (p.Asn1181Ile)
c.3311A>T (p.Asn1104Ile)
c.2774A>T (p.Asn925Ile)
c.3659A>T (p.Asn1220Ile)
n.2452A>T
c.3581A>T (p.Asn1194Ile)
n.3644A>T
c.*1134A>T (n.*1134A>T)
n.4395A>T
c.*825A>T (n.*825A>T)
c.*1891A>T (n.*1891A>T)
n.4520A>T
c.2717A>T (p.Asn906Ile)
c.3476A>T (p.Asn1159Ile)
c.*3181A>T (n.*3181A>T)
n.3327A>T
c.*3259A>T (n.*3259A>T)
n.418A>T
c.3566A>T (p.Asn1189Ile)
c.3524A>T (p.Asn1175Ile)
c.3788A>T (p.Asn1263Ile)
c.3710A>T (p.Asn1237Ile)
c.3677A>T (p.Asn1226Ile)
c.3686A>T (p.Asn1229Ile)
c.2696A>T (p.Asn899Ile)
1g.154584828T>CCA342634455ADARc.3553A>G (n.3553A>G)
c.3689A>G (p.Asn1230Ser)
c.3542A>G (p.Asn1181Ser)
c.3311A>G (p.Asn1104Ser)
c.2774A>G (p.Asn925Ser)
c.3659A>G (p.Asn1220Ser)
n.2452A>G
c.3581A>G (p.Asn1194Ser)
n.3644A>G
c.*1134A>G (n.*1134A>G)
n.4395A>G
c.*825A>G (n.*825A>G)
c.*1891A>G (n.*1891A>G)
n.4520A>G
c.2717A>G (p.Asn906Ser)
c.3476A>G (p.Asn1159Ser)
c.*3181A>G (n.*3181A>G)
n.3327A>G
c.*3259A>G (n.*3259A>G)
n.418A>G
c.3566A>G (p.Asn1189Ser)
c.3524A>G (p.Asn1175Ser)
c.3788A>G (p.Asn1263Ser)
c.3710A>G (p.Asn1237Ser)
c.3677A>G (p.Asn1226Ser)
c.3686A>G (p.Asn1229Ser)
c.2696A>G (p.Asn899Ser)
1g.154584828T>GCA342634456ADARc.3553A>C (n.3553A>C)
c.3689A>C (p.Asn1230Thr)
c.3542A>C (p.Asn1181Thr)
c.3311A>C (p.Asn1104Thr)
c.2774A>C (p.Asn925Thr)
c.3659A>C (p.Asn1220Thr)
n.2452A>C
c.3581A>C (p.Asn1194Thr)
n.3644A>C
c.*1134A>C (n.*1134A>C)
n.4395A>C
c.*825A>C (n.*825A>C)
c.*1891A>C (n.*1891A>C)
n.4520A>C
c.2717A>C (p.Asn906Thr)
c.3476A>C (p.Asn1159Thr)
c.*3181A>C (n.*3181A>C)
n.3327A>C
c.*3259A>C (n.*3259A>C)
n.418A>C
c.3566A>C (p.Asn1189Thr)
c.3524A>C (p.Asn1175Thr)
c.3788A>C (p.Asn1263Thr)
c.3710A>C (p.Asn1237Thr)
c.3677A>C (p.Asn1226Thr)
c.3686A>C (p.Asn1229Thr)
c.2696A>C (p.Asn899Thr)
1g.154584829T>ACA342634457ADARc.3552A>T (n.3552A>T)
c.3688A>T (p.Asn1230Tyr)
c.3541A>T (p.Asn1181Tyr)
c.3310A>T (p.Asn1104Tyr)
c.2773A>T (p.Asn925Tyr)
c.3658A>T (p.Asn1220Tyr)
n.2451A>T
c.3580A>T (p.Asn1194Tyr)
n.3643A>T
c.*1133A>T (n.*1133A>T)
n.4394A>T
c.*824A>T (n.*824A>T)
c.*1890A>T (n.*1890A>T)
n.4519A>T
c.2716A>T (p.Asn906Tyr)
c.3475A>T (p.Asn1159Tyr)
c.*3180A>T (n.*3180A>T)
n.3326A>T
c.*3258A>T (n.*3258A>T)
n.417A>T
c.3565A>T (p.Asn1189Tyr)
c.3523A>T (p.Asn1175Tyr)
c.3787A>T (p.Asn1263Tyr)
c.3709A>T (p.Asn1237Tyr)
c.3676A>T (p.Asn1226Tyr)
c.3685A>T (p.Asn1229Tyr)
c.2695A>T (p.Asn899Tyr)
1g.154584829T>CCA342634458ADARc.3552A>G (n.3552A>G)
c.3688A>G (p.Asn1230Asp)
c.3541A>G (p.Asn1181Asp)
c.3310A>G (p.Asn1104Asp)
c.2773A>G (p.Asn925Asp)
c.3658A>G (p.Asn1220Asp)
n.2451A>G
c.3580A>G (p.Asn1194Asp)
n.3643A>G
c.*1133A>G (n.*1133A>G)
n.4394A>G
c.*824A>G (n.*824A>G)
c.*1890A>G (n.*1890A>G)
n.4519A>G
c.2716A>G (p.Asn906Asp)
c.3475A>G (p.Asn1159Asp)
c.*3180A>G (n.*3180A>G)
n.3326A>G
c.*3258A>G (n.*3258A>G)
n.417A>G
c.3565A>G (p.Asn1189Asp)
c.3523A>G (p.Asn1175Asp)
c.3787A>G (p.Asn1263Asp)
c.3709A>G (p.Asn1237Asp)
c.3676A>G (p.Asn1226Asp)
c.3685A>G (p.Asn1229Asp)
c.2695A>G (p.Asn899Asp)
1g.154584829T>GCA342634459ADARc.3552A>C (n.3552A>C)
c.3688A>C (p.Asn1230His)
c.3541A>C (p.Asn1181His)
c.3310A>C (p.Asn1104His)
c.2773A>C (p.Asn925His)
c.3658A>C (p.Asn1220His)
n.2451A>C
c.3580A>C (p.Asn1194His)
n.3643A>C
c.*1133A>C (n.*1133A>C)
n.4394A>C
c.*824A>C (n.*824A>C)
c.*1890A>C (n.*1890A>C)
n.4519A>C
c.2716A>C (p.Asn906His)
c.3475A>C (p.Asn1159His)
c.*3180A>C (n.*3180A>C)
n.3326A>C
c.*3258A>C (n.*3258A>C)
n.417A>C
c.3565A>C (p.Asn1189His)
c.3523A>C (p.Asn1175His)
c.3787A>C (p.Asn1263His)
c.3709A>C (p.Asn1237His)
c.3676A>C (p.Asn1226His)
c.3685A>C (p.Asn1229His)
c.2695A>C (p.Asn899His)
1g.154584830C>ACA342634460ADARc.3551G>T (n.3551G>T)
c.3687G>T (p.Lys1229Asn)
c.3540G>T (p.Lys1180Asn)
c.3309G>T (p.Lys1103Asn)
c.2772G>T (p.Lys924Asn)
c.3657G>T (p.Lys1219Asn)
n.2450G>T
c.3579G>T (p.Lys1193Asn)
n.3642G>T
c.*1132G>T (n.*1132G>T)
n.4393G>T
c.*823G>T (n.*823G>T)
c.*1889G>T (n.*1889G>T)
n.4518G>T
c.2715G>T (p.Lys905Asn)
c.3474G>T (p.Lys1158Asn)
c.*3179G>T (n.*3179G>T)
n.3325G>T
c.*3257G>T (n.*3257G>T)
n.416G>T
c.3564G>T (p.Lys1188Asn)
c.3522G>T (p.Lys1174Asn)
c.3786G>T (p.Lys1262Asn)
c.3708G>T (p.Lys1236Asn)
c.3675G>T (p.Lys1225Asn)
c.3684G>T (p.Lys1228Asn)
c.2694G>T (p.Lys898Asn)
 ClinVar dbSNP
1g.154584830C>GCA342634461ADARc.3551G>C (n.3551G>C)
c.3687G>C (p.Lys1229Asn)
c.3540G>C (p.Lys1180Asn)
c.3309G>C (p.Lys1103Asn)
c.2772G>C (p.Lys924Asn)
c.3657G>C (p.Lys1219Asn)
n.2450G>C
c.3579G>C (p.Lys1193Asn)
n.3642G>C
c.*1132G>C (n.*1132G>C)
n.4393G>C
c.*823G>C (n.*823G>C)
c.*1889G>C (n.*1889G>C)
n.4518G>C
c.2715G>C (p.Lys905Asn)
c.3474G>C (p.Lys1158Asn)
c.*3179G>C (n.*3179G>C)
n.3325G>C
c.*3257G>C (n.*3257G>C)
n.416G>C
c.3564G>C (p.Lys1188Asn)
c.3522G>C (p.Lys1174Asn)
c.3786G>C (p.Lys1262Asn)
c.3708G>C (p.Lys1236Asn)
c.3675G>C (p.Lys1225Asn)
c.3684G>C (p.Lys1228Asn)
c.2694G>C (p.Lys898Asn)
1g.154584830C>TCA421231154ADARc.3551G>A (n.3551G>A)
c.3687G>A (p.Lys1229=)
c.3540G>A (p.Lys1180=)
c.3309G>A (p.Lys1103=)
c.2772G>A (p.Lys924=)
c.3657G>A (p.Lys1219=)
n.2450G>A
c.3579G>A (p.Lys1193=)
n.3642G>A
c.*1132G>A (n.*1132G>A)
n.4393G>A
c.*823G>A (n.*823G>A)
c.*1889G>A (n.*1889G>A)
n.4518G>A
c.2715G>A (p.Lys905=)
c.3474G>A (p.Lys1158=)
c.*3179G>A (n.*3179G>A)
n.3325G>A
c.*3257G>A (n.*3257G>A)
n.416G>A
c.3564G>A (p.Lys1188=)
c.3522G>A (p.Lys1174=)
c.3786G>A (p.Lys1262=)
c.3708G>A (p.Lys1236=)
c.3675G>A (p.Lys1225=)
c.3684G>A (p.Lys1228=)
c.2694G>A (p.Lys898=)
1g.154584831T>ACA342634462ADARc.3550A>T (n.3550A>T)
c.3686A>T (p.Lys1229Met)
c.3539A>T (p.Lys1180Met)
c.3308A>T (p.Lys1103Met)
c.2771A>T (p.Lys924Met)
c.3656A>T (p.Lys1219Met)
n.2449A>T
c.3578A>T (p.Lys1193Met)
n.3641A>T
c.*1131A>T (n.*1131A>T)
n.4392A>T
c.*822A>T (n.*822A>T)
c.*1888A>T (n.*1888A>T)
n.4517A>T
c.2714A>T (p.Lys905Met)
c.3473A>T (p.Lys1158Met)
c.*3178A>T (n.*3178A>T)
n.3324A>T
c.*3256A>T (n.*3256A>T)
n.415A>T
c.3563A>T (p.Lys1188Met)
c.3521A>T (p.Lys1174Met)
c.3785A>T (p.Lys1262Met)
c.3707A>T (p.Lys1236Met)
c.3674A>T (p.Lys1225Met)
c.3683A>T (p.Lys1228Met)
c.2693A>T (p.Lys898Met)
1g.154584831T>CCA342634463ADARc.3550A>G (n.3550A>G)
c.3686A>G (p.Lys1229Arg)
c.3539A>G (p.Lys1180Arg)
c.3308A>G (p.Lys1103Arg)
c.2771A>G (p.Lys924Arg)
c.3656A>G (p.Lys1219Arg)
n.2449A>G
c.3578A>G (p.Lys1193Arg)
n.3641A>G
c.*1131A>G (n.*1131A>G)
n.4392A>G
c.*822A>G (n.*822A>G)
c.*1888A>G (n.*1888A>G)
n.4517A>G
c.2714A>G (p.Lys905Arg)
c.3473A>G (p.Lys1158Arg)
c.*3178A>G (n.*3178A>G)
n.3324A>G
c.*3256A>G (n.*3256A>G)
n.415A>G
c.3563A>G (p.Lys1188Arg)
c.3521A>G (p.Lys1174Arg)
c.3785A>G (p.Lys1262Arg)
c.3707A>G (p.Lys1236Arg)
c.3674A>G (p.Lys1225Arg)
c.3683A>G (p.Lys1228Arg)
c.2693A>G (p.Lys898Arg)
1g.154584831T>GCA342634464ADARc.3550A>C (n.3550A>C)
c.3686A>C (p.Lys1229Thr)
c.3539A>C (p.Lys1180Thr)
c.3308A>C (p.Lys1103Thr)
c.2771A>C (p.Lys924Thr)
c.3656A>C (p.Lys1219Thr)
n.2449A>C
c.3578A>C (p.Lys1193Thr)
n.3641A>C
c.*1131A>C (n.*1131A>C)
n.4392A>C
c.*822A>C (n.*822A>C)
c.*1888A>C (n.*1888A>C)
n.4517A>C
c.2714A>C (p.Lys905Thr)
c.3473A>C (p.Lys1158Thr)
c.*3178A>C (n.*3178A>C)
n.3324A>C
c.*3256A>C (n.*3256A>C)
n.415A>C
c.3563A>C (p.Lys1188Thr)
c.3521A>C (p.Lys1174Thr)
c.3785A>C (p.Lys1262Thr)
c.3707A>C (p.Lys1236Thr)
c.3674A>C (p.Lys1225Thr)
c.3683A>C (p.Lys1228Thr)
c.2693A>C (p.Lys898Thr)
1g.154584832T>ACA342634466ADARc.3549A>T (n.3549A>T)
c.3685A>T (p.Lys1229Ter)
c.3538A>T (p.Lys1180Ter)
c.3307A>T (p.Lys1103Ter)
c.2770A>T (p.Lys924Ter)
c.3655A>T (p.Lys1219Ter)
n.2448A>T
c.3577A>T (p.Lys1193Ter)
n.3640A>T
c.*1130A>T (n.*1130A>T)
n.4391A>T
c.*821A>T (n.*821A>T)
c.*1887A>T (n.*1887A>T)
n.4516A>T
c.2713A>T (p.Lys905Ter)
c.3472A>T (p.Lys1158Ter)
c.*3177A>T (n.*3177A>T)
n.3323A>T
c.*3255A>T (n.*3255A>T)
n.414A>T
c.3562A>T (p.Lys1188Ter)
c.3520A>T (p.Lys1174Ter)
c.3784A>T (p.Lys1262Ter)
c.3706A>T (p.Lys1236Ter)
c.3673A>T (p.Lys1225Ter)
c.3682A>T (p.Lys1228Ter)
c.2692A>T (p.Lys898Ter)
1g.154584832T>CCA342634467ADARc.3549A>G (n.3549A>G)
c.3685A>G (p.Lys1229Glu)
c.3538A>G (p.Lys1180Glu)
c.3307A>G (p.Lys1103Glu)
c.2770A>G (p.Lys924Glu)
c.3655A>G (p.Lys1219Glu)
n.2448A>G
c.3577A>G (p.Lys1193Glu)
n.3640A>G
c.*1130A>G (n.*1130A>G)
n.4391A>G
c.*821A>G (n.*821A>G)
c.*1887A>G (n.*1887A>G)
n.4516A>G
c.2713A>G (p.Lys905Glu)
c.3472A>G (p.Lys1158Glu)
c.*3177A>G (n.*3177A>G)
n.3323A>G
c.*3255A>G (n.*3255A>G)
n.414A>G
c.3562A>G (p.Lys1188Glu)
c.3520A>G (p.Lys1174Glu)
c.3784A>G (p.Lys1262Glu)
c.3706A>G (p.Lys1236Glu)
c.3673A>G (p.Lys1225Glu)
c.3682A>G (p.Lys1228Glu)
c.2692A>G (p.Lys898Glu)
1g.154584832T>GCA342634465ADARc.3549A>C (n.3549A>C)
c.3685A>C (p.Lys1229Gln)
c.3538A>C (p.Lys1180Gln)
c.3307A>C (p.Lys1103Gln)
c.2770A>C (p.Lys924Gln)
c.3655A>C (p.Lys1219Gln)
n.2448A>C
c.3577A>C (p.Lys1193Gln)
n.3640A>C
c.*1130A>C (n.*1130A>C)
n.4391A>C
c.*821A>C (n.*821A>C)
c.*1887A>C (n.*1887A>C)
n.4516A>C
c.2713A>C (p.Lys905Gln)
c.3472A>C (p.Lys1158Gln)
c.*3177A>C (n.*3177A>C)
n.3323A>C
c.*3255A>C (n.*3255A>C)
n.414A>C
c.3562A>C (p.Lys1188Gln)
c.3520A>C (p.Lys1174Gln)
c.3784A>C (p.Lys1262Gln)
c.3706A>C (p.Lys1236Gln)
c.3673A>C (p.Lys1225Gln)
c.3682A>C (p.Lys1228Gln)
c.2692A>C (p.Lys898Gln)
1g.154584833T>ACA342634468ADARc.3548A>T (n.3548A>T)
c.3684A>T (p.Glu1228Asp)
c.3537A>T (p.Glu1179Asp)
c.3306A>T (p.Glu1102Asp)
c.2769A>T (p.Glu923Asp)
c.3654A>T (p.Glu1218Asp)
n.2447A>T
c.3576A>T (p.Glu1192Asp)
n.3639A>T
c.*1129A>T (n.*1129A>T)
n.4390A>T
c.*820A>T (n.*820A>T)
c.*1886A>T (n.*1886A>T)
n.4515A>T
c.2712A>T (p.Glu904Asp)
c.3471A>T (p.Glu1157Asp)
c.*3176A>T (n.*3176A>T)
n.3322A>T
c.*3254A>T (n.*3254A>T)
n.413A>T
c.3561A>T (p.Glu1187Asp)
c.3519A>T (p.Glu1173Asp)
c.3783A>T (p.Glu1261Asp)
c.3705A>T (p.Glu1235Asp)
c.3672A>T (p.Glu1224Asp)
c.3681A>T (p.Glu1227Asp)
c.2691A>T (p.Glu897Asp)
1g.154584833T>CCA1130916ADARc.3548A>G (n.3548A>G)
c.3684A>G (p.Glu1228=)
c.3537A>G (p.Glu1179=)
c.3306A>G (p.Glu1102=)
c.2769A>G (p.Glu923=)
c.3654A>G (p.Glu1218=)
n.2447A>G
c.3576A>G (p.Glu1192=)
n.3639A>G
c.*1129A>G (n.*1129A>G)
n.4390A>G
c.*820A>G (n.*820A>G)
c.*1886A>G (n.*1886A>G)
n.4515A>G
c.2712A>G (p.Glu904=)
c.3471A>G (p.Glu1157=)
c.*3176A>G (n.*3176A>G)
n.3322A>G
c.*3254A>G (n.*3254A>G)
n.413A>G
c.3561A>G (p.Glu1187=)
c.3519A>G (p.Glu1173=)
c.3783A>G (p.Glu1261=)
c.3705A>G (p.Glu1235=)
c.3672A>G (p.Glu1224=)
c.3681A>G (p.Glu1227=)
c.2691A>G (p.Glu897=)
 dbSNP ExAC gnomAD v2
1g.154584833T>GCA342634469ADARc.3548A>C (n.3548A>C)
c.3684A>C (p.Glu1228Asp)
c.3537A>C (p.Glu1179Asp)
c.3306A>C (p.Glu1102Asp)
c.2769A>C (p.Glu923Asp)
c.3654A>C (p.Glu1218Asp)
n.2447A>C
c.3576A>C (p.Glu1192Asp)
n.3639A>C
c.*1129A>C (n.*1129A>C)
n.4390A>C
c.*820A>C (n.*820A>C)
c.*1886A>C (n.*1886A>C)
n.4515A>C
c.2712A>C (p.Glu904Asp)
c.3471A>C (p.Glu1157Asp)
c.*3176A>C (n.*3176A>C)
n.3322A>C
c.*3254A>C (n.*3254A>C)
n.413A>C
c.3561A>C (p.Glu1187Asp)
c.3519A>C (p.Glu1173Asp)
c.3783A>C (p.Glu1261Asp)
c.3705A>C (p.Glu1235Asp)
c.3672A>C (p.Glu1224Asp)
c.3681A>C (p.Glu1227Asp)
c.2691A>C (p.Glu897Asp)
1g.154584833T=CA1143948707ADARc.3548A= (n.3548A=)
c.3684A= (p.Glu1228=)
c.3537A= (p.Glu1179=)
c.3306A= (p.Glu1102=)
c.2769A= (p.Glu923=)
c.3654A= (p.Glu1218=)
n.2447A=
c.3576A= (p.Glu1192=)
n.3639A=
c.*1129A= (n.*1129A=)
n.4390A=
c.*820A= (n.*820A=)
c.*1886A= (n.*1886A=)
n.4515A=
c.2712A= (p.Glu904=)
c.3471A= (p.Glu1157=)
c.*3176A= (n.*3176A=)
n.3322A=
c.*3254A= (n.*3254A=)
n.413A=
c.3561A= (p.Glu1187=)
c.3519A= (p.Glu1173=)
c.3783A= (p.Glu1261=)
c.3705A= (p.Glu1235=)
c.3672A= (p.Glu1224=)
c.3681A= (p.Glu1227=)
c.2691A= (p.Glu897=)
1g.154584834T>ACA342634470ADARc.3547A>T (n.3547A>T)
c.3683A>T (p.Glu1228Val)
c.3536A>T (p.Glu1179Val)
c.3305A>T (p.Glu1102Val)
c.2768A>T (p.Glu923Val)
c.3653A>T (p.Glu1218Val)
n.2446A>T
c.3575A>T (p.Glu1192Val)
n.3638A>T
c.*1128A>T (n.*1128A>T)
n.4389A>T
c.*819A>T (n.*819A>T)
c.*1885A>T (n.*1885A>T)
n.4514A>T
c.2711A>T (p.Glu904Val)
c.3470A>T (p.Glu1157Val)
c.*3175A>T (n.*3175A>T)
n.3321A>T
c.*3253A>T (n.*3253A>T)
n.412A>T
c.3560A>T (p.Glu1187Val)
c.3518A>T (p.Glu1173Val)
c.3782A>T (p.Glu1261Val)
c.3704A>T (p.Glu1235Val)
c.3671A>T (p.Glu1224Val)
c.3680A>T (p.Glu1227Val)
c.2690A>T (p.Glu897Val)
1g.154584834T>CCA342634471ADARc.3547A>G (n.3547A>G)
c.3683A>G (p.Glu1228Gly)
c.3536A>G (p.Glu1179Gly)
c.3305A>G (p.Glu1102Gly)
c.2768A>G (p.Glu923Gly)
c.3653A>G (p.Glu1218Gly)
n.2446A>G
c.3575A>G (p.Glu1192Gly)
n.3638A>G
c.*1128A>G (n.*1128A>G)
n.4389A>G
c.*819A>G (n.*819A>G)
c.*1885A>G (n.*1885A>G)
n.4514A>G
c.2711A>G (p.Glu904Gly)
c.3470A>G (p.Glu1157Gly)
c.*3175A>G (n.*3175A>G)
n.3321A>G
c.*3253A>G (n.*3253A>G)
n.412A>G
c.3560A>G (p.Glu1187Gly)
c.3518A>G (p.Glu1173Gly)
c.3782A>G (p.Glu1261Gly)
c.3704A>G (p.Glu1235Gly)
c.3671A>G (p.Glu1224Gly)
c.3680A>G (p.Glu1227Gly)
c.2690A>G (p.Glu897Gly)
1g.154584834T>GCA342634472ADARc.3547A>C (n.3547A>C)
c.3683A>C (p.Glu1228Ala)
c.3536A>C (p.Glu1179Ala)
c.3305A>C (p.Glu1102Ala)
c.2768A>C (p.Glu923Ala)
c.3653A>C (p.Glu1218Ala)
n.2446A>C
c.3575A>C (p.Glu1192Ala)
n.3638A>C
c.*1128A>C (n.*1128A>C)
n.4389A>C
c.*819A>C (n.*819A>C)
c.*1885A>C (n.*1885A>C)
n.4514A>C
c.2711A>C (p.Glu904Ala)
c.3470A>C (p.Glu1157Ala)
c.*3175A>C (n.*3175A>C)
n.3321A>C
c.*3253A>C (n.*3253A>C)
n.412A>C
c.3560A>C (p.Glu1187Ala)
c.3518A>C (p.Glu1173Ala)
c.3782A>C (p.Glu1261Ala)
c.3704A>C (p.Glu1235Ala)
c.3671A>C (p.Glu1224Ala)
c.3680A>C (p.Glu1227Ala)
c.2690A>C (p.Glu897Ala)
1g.154584835C>ACA342634475ADARc.3546G>T (n.3546G>T)
c.3682G>T (p.Glu1228Ter)
c.3535G>T (p.Glu1179Ter)
c.3304G>T (p.Glu1102Ter)
c.2767G>T (p.Glu923Ter)
c.3652G>T (p.Glu1218Ter)
n.2445G>T
c.3574G>T (p.Glu1192Ter)
n.3637G>T
c.*1127G>T (n.*1127G>T)
n.4388G>T
c.*818G>T (n.*818G>T)
c.*1884G>T (n.*1884G>T)
n.4513G>T
c.2710G>T (p.Glu904Ter)
c.3469G>T (p.Glu1157Ter)
c.*3174G>T (n.*3174G>T)
n.3320G>T
c.*3252G>T (n.*3252G>T)
n.411G>T
c.3559G>T (p.Glu1187Ter)
c.3517G>T (p.Glu1173Ter)
c.3781G>T (p.Glu1261Ter)
c.3703G>T (p.Glu1235Ter)
c.3670G>T (p.Glu1224Ter)
c.3679G>T (p.Glu1227Ter)
c.2689G>T (p.Glu897Ter)
1g.154584835C>GCA342634473ADARc.3546G>C (n.3546G>C)
c.3682G>C (p.Glu1228Gln)
c.3535G>C (p.Glu1179Gln)
c.3304G>C (p.Glu1102Gln)
c.2767G>C (p.Glu923Gln)
c.3652G>C (p.Glu1218Gln)
n.2445G>C
c.3574G>C (p.Glu1192Gln)
n.3637G>C
c.*1127G>C (n.*1127G>C)
n.4388G>C
c.*818G>C (n.*818G>C)
c.*1884G>C (n.*1884G>C)
n.4513G>C
c.2710G>C (p.Glu904Gln)
c.3469G>C (p.Glu1157Gln)
c.*3174G>C (n.*3174G>C)
n.3320G>C
c.*3252G>C (n.*3252G>C)
n.411G>C
c.3559G>C (p.Glu1187Gln)
c.3517G>C (p.Glu1173Gln)
c.3781G>C (p.Glu1261Gln)
c.3703G>C (p.Glu1235Gln)
c.3670G>C (p.Glu1224Gln)
c.3679G>C (p.Glu1227Gln)
c.2689G>C (p.Glu897Gln)
1g.154584835C>TCA342634474ADARc.3546G>A (n.3546G>A)
c.3682G>A (p.Glu1228Lys)
c.3535G>A (p.Glu1179Lys)
c.3304G>A (p.Glu1102Lys)
c.2767G>A (p.Glu923Lys)
c.3652G>A (p.Glu1218Lys)
n.2445G>A
c.3574G>A (p.Glu1192Lys)
n.3637G>A
c.*1127G>A (n.*1127G>A)
n.4388G>A
c.*818G>A (n.*818G>A)
c.*1884G>A (n.*1884G>A)
n.4513G>A
c.2710G>A (p.Glu904Lys)
c.3469G>A (p.Glu1157Lys)
c.*3174G>A (n.*3174G>A)
n.3320G>A
c.*3252G>A (n.*3252G>A)
n.411G>A
c.3559G>A (p.Glu1187Lys)
c.3517G>A (p.Glu1173Lys)
c.3781G>A (p.Glu1261Lys)
c.3703G>A (p.Glu1235Lys)
c.3670G>A (p.Glu1224Lys)
c.3679G>A (p.Glu1227Lys)
c.2689G>A (p.Glu897Lys)
1g.154584836C>ACA342634476ADARc.3545G>T (n.3545G>T)
c.3681G>T (p.Glu1227Asp)
c.3534G>T (p.Glu1178Asp)
c.3303G>T (p.Glu1101Asp)
c.2766G>T (p.Glu922Asp)
c.3651G>T (p.Glu1217Asp)
n.2444G>T
c.3573G>T (p.Glu1191Asp)
n.3636G>T
c.*1126G>T (n.*1126G>T)
n.4387G>T
c.*817G>T (n.*817G>T)
c.*1883G>T (n.*1883G>T)
n.4512G>T
c.2709G>T (p.Glu903Asp)
c.3468G>T (p.Glu1156Asp)
c.*3173G>T (n.*3173G>T)
n.3319G>T
c.*3251G>T (n.*3251G>T)
n.410G>T
c.3558G>T (p.Glu1186Asp)
c.3516G>T (p.Glu1172Asp)
c.3780G>T (p.Glu1260Asp)
c.3702G>T (p.Glu1234Asp)
c.3669G>T (p.Glu1223Asp)
c.3678G>T (p.Glu1226Asp)
c.2688G>T (p.Glu896Asp)
1g.154584836C=CA2480931181ADARc.3545G= (n.3545G=)
c.3681G= (p.Glu1227=)
c.3534G= (p.Glu1178=)
c.3303G= (p.Glu1101=)
c.2766G= (p.Glu922=)
c.3651G= (p.Glu1217=)
n.2444G=
c.3573G= (p.Glu1191=)
n.3636G=
c.*1126G= (n.*1126G=)
n.4387G=
c.*817G= (n.*817G=)
c.*1883G= (n.*1883G=)
n.4512G=
c.2709G= (p.Glu903=)
c.3468G= (p.Glu1156=)
c.*3173G= (n.*3173G=)
n.3319G=
c.*3251G= (n.*3251G=)
n.410G=
c.3558G= (p.Glu1186=)
c.3516G= (p.Glu1172=)
c.3780G= (p.Glu1260=)
c.3702G= (p.Glu1234=)
c.3669G= (p.Glu1223=)
c.3678G= (p.Glu1226=)
c.2688G= (p.Glu896=)
1g.154584836C>GCA342634477ADARc.3545G>C (n.3545G>C)
c.3681G>C (p.Glu1227Asp)
c.3534G>C (p.Glu1178Asp)
c.3303G>C (p.Glu1101Asp)
c.2766G>C (p.Glu922Asp)
c.3651G>C (p.Glu1217Asp)
n.2444G>C
c.3573G>C (p.Glu1191Asp)
n.3636G>C
c.*1126G>C (n.*1126G>C)
n.4387G>C
c.*817G>C (n.*817G>C)
c.*1883G>C (n.*1883G>C)
n.4512G>C
c.2709G>C (p.Glu903Asp)
c.3468G>C (p.Glu1156Asp)
c.*3173G>C (n.*3173G>C)
n.3319G>C
c.*3251G>C (n.*3251G>C)
n.410G>C
c.3558G>C (p.Glu1186Asp)
c.3516G>C (p.Glu1172Asp)
c.3780G>C (p.Glu1260Asp)
c.3702G>C (p.Glu1234Asp)
c.3669G>C (p.Glu1223Asp)
c.3678G>C (p.Glu1226Asp)
c.2688G>C (p.Glu896Asp)
1g.154584836C>TCA421231316ADARc.3545G>A (n.3545G>A)
c.3681G>A (p.Glu1227=)
c.3534G>A (p.Glu1178=)
c.3303G>A (p.Glu1101=)
c.2766G>A (p.Glu922=)
c.3651G>A (p.Glu1217=)
n.2444G>A
c.3573G>A (p.Glu1191=)
n.3636G>A
c.*1126G>A (n.*1126G>A)
n.4387G>A
c.*817G>A (n.*817G>A)
c.*1883G>A (n.*1883G>A)
n.4512G>A
c.2709G>A (p.Glu903=)
c.3468G>A (p.Glu1156=)
c.*3173G>A (n.*3173G>A)
n.3319G>A
c.*3251G>A (n.*3251G>A)
n.410G>A
c.3558G>A (p.Glu1186=)
c.3516G>A (p.Glu1172=)
c.3780G>A (p.Glu1260=)
c.3702G>A (p.Glu1234=)
c.3669G>A (p.Glu1223=)
c.3678G>A (p.Glu1226=)
c.2688G>A (p.Glu896=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154584837T>ACA342634478ADARc.3544A>T (n.3544A>T)
c.3680A>T (p.Glu1227Val)
c.3533A>T (p.Glu1178Val)
c.3302A>T (p.Glu1101Val)
c.2765A>T (p.Glu922Val)
c.3650A>T (p.Glu1217Val)
n.2443A>T
c.3572A>T (p.Glu1191Val)
n.3635A>T
c.*1125A>T (n.*1125A>T)
n.4386A>T
c.*816A>T (n.*816A>T)
c.*1882A>T (n.*1882A>T)
n.4511A>T
c.2708A>T (p.Glu903Val)
c.3467A>T (p.Glu1156Val)
c.*3172A>T (n.*3172A>T)
n.3318A>T
c.*3250A>T (n.*3250A>T)
n.409A>T
c.3557A>T (p.Glu1186Val)
c.3515A>T (p.Glu1172Val)
c.3779A>T (p.Glu1260Val)
c.3701A>T (p.Glu1234Val)
c.3668A>T (p.Glu1223Val)
c.3677A>T (p.Glu1226Val)
c.2687A>T (p.Glu896Val)
1g.154584837T>CCA342634479ADARc.3544A>G (n.3544A>G)
c.3680A>G (p.Glu1227Gly)
c.3533A>G (p.Glu1178Gly)
c.3302A>G (p.Glu1101Gly)
c.2765A>G (p.Glu922Gly)
c.3650A>G (p.Glu1217Gly)
n.2443A>G
c.3572A>G (p.Glu1191Gly)
n.3635A>G
c.*1125A>G (n.*1125A>G)
n.4386A>G
c.*816A>G (n.*816A>G)
c.*1882A>G (n.*1882A>G)
n.4511A>G
c.2708A>G (p.Glu903Gly)
c.3467A>G (p.Glu1156Gly)
c.*3172A>G (n.*3172A>G)
n.3318A>G
c.*3250A>G (n.*3250A>G)
n.409A>G
c.3557A>G (p.Glu1186Gly)
c.3515A>G (p.Glu1172Gly)
c.3779A>G (p.Glu1260Gly)
c.3701A>G (p.Glu1234Gly)
c.3668A>G (p.Glu1223Gly)
c.3677A>G (p.Glu1226Gly)
c.2687A>G (p.Glu896Gly)
1g.154584837T>GCA342634480ADARc.3544A>C (n.3544A>C)
c.3680A>C (p.Glu1227Ala)
c.3533A>C (p.Glu1178Ala)
c.3302A>C (p.Glu1101Ala)
c.2765A>C (p.Glu922Ala)
c.3650A>C (p.Glu1217Ala)
n.2443A>C
c.3572A>C (p.Glu1191Ala)
n.3635A>C
c.*1125A>C (n.*1125A>C)
n.4386A>C
c.*816A>C (n.*816A>C)
c.*1882A>C (n.*1882A>C)
n.4511A>C
c.2708A>C (p.Glu903Ala)
c.3467A>C (p.Glu1156Ala)
c.*3172A>C (n.*3172A>C)
n.3318A>C
c.*3250A>C (n.*3250A>C)
n.409A>C
c.3557A>C (p.Glu1186Ala)
c.3515A>C (p.Glu1172Ala)
c.3779A>C (p.Glu1260Ala)
c.3701A>C (p.Glu1234Ala)
c.3668A>C (p.Glu1223Ala)
c.3677A>C (p.Glu1226Ala)
c.2687A>C (p.Glu896Ala)
1g.154584838C>ACA342634481ADARc.3543G>T (n.3543G>T)
c.3679G>T (p.Glu1227Ter)
c.3532G>T (p.Glu1178Ter)
c.3301G>T (p.Glu1101Ter)
c.2764G>T (p.Glu922Ter)
c.3649G>T (p.Glu1217Ter)
n.2442G>T
c.3571G>T (p.Glu1191Ter)
n.3634G>T
c.*1124G>T (n.*1124G>T)
n.4385G>T
c.*815G>T (n.*815G>T)
c.*1881G>T (n.*1881G>T)
n.4510G>T
c.2707G>T (p.Glu903Ter)
c.3466G>T (p.Glu1156Ter)
c.*3171G>T (n.*3171G>T)
n.3317G>T
c.*3249G>T (n.*3249G>T)
n.408G>T
c.3556G>T (p.Glu1186Ter)
c.3514G>T (p.Glu1172Ter)
c.3778G>T (p.Glu1260Ter)
c.3700G>T (p.Glu1234Ter)
c.3667G>T (p.Glu1223Ter)
c.3676G>T (p.Glu1226Ter)
c.2686G>T (p.Glu896Ter)
1g.154584838C>GCA342634483ADARc.3543G>C (n.3543G>C)
c.3679G>C (p.Glu1227Gln)
c.3532G>C (p.Glu1178Gln)
c.3301G>C (p.Glu1101Gln)
c.2764G>C (p.Glu922Gln)
c.3649G>C (p.Glu1217Gln)
n.2442G>C
c.3571G>C (p.Glu1191Gln)
n.3634G>C
c.*1124G>C (n.*1124G>C)
n.4385G>C
c.*815G>C (n.*815G>C)
c.*1881G>C (n.*1881G>C)
n.4510G>C
c.2707G>C (p.Glu903Gln)
c.3466G>C (p.Glu1156Gln)
c.*3171G>C (n.*3171G>C)
n.3317G>C
c.*3249G>C (n.*3249G>C)
n.408G>C
c.3556G>C (p.Glu1186Gln)
c.3514G>C (p.Glu1172Gln)
c.3778G>C (p.Glu1260Gln)
c.3700G>C (p.Glu1234Gln)
c.3667G>C (p.Glu1223Gln)
c.3676G>C (p.Glu1226Gln)
c.2686G>C (p.Glu896Gln)
1g.154584838C>TCA342634482ADARc.3543G>A (n.3543G>A)
c.3679G>A (p.Glu1227Lys)
c.3532G>A (p.Glu1178Lys)
c.3301G>A (p.Glu1101Lys)
c.2764G>A (p.Glu922Lys)
c.3649G>A (p.Glu1217Lys)
n.2442G>A
c.3571G>A (p.Glu1191Lys)
n.3634G>A
c.*1124G>A (n.*1124G>A)
n.4385G>A
c.*815G>A (n.*815G>A)
c.*1881G>A (n.*1881G>A)
n.4510G>A
c.2707G>A (p.Glu903Lys)
c.3466G>A (p.Glu1156Lys)
c.*3171G>A (n.*3171G>A)
n.3317G>A
c.*3249G>A (n.*3249G>A)
n.408G>A
c.3556G>A (p.Glu1186Lys)
c.3514G>A (p.Glu1172Lys)
c.3778G>A (p.Glu1260Lys)
c.3700G>A (p.Glu1234Lys)
c.3667G>A (p.Glu1223Lys)
c.3676G>A (p.Glu1226Lys)
c.2686G>A (p.Glu896Lys)
1g.154584839C>ACA342634484ADARc.3542G>T (n.3542G>T)
c.3678G>T (p.Gln1226His)
c.3531G>T (p.Gln1177His)
c.3300G>T (p.Gln1100His)
c.2763G>T (p.Gln921His)
c.3648G>T (p.Gln1216His)
n.2441G>T
c.3570G>T (p.Gln1190His)
n.3633G>T
c.*1123G>T (n.*1123G>T)
n.4384G>T
c.*814G>T (n.*814G>T)
c.*1880G>T (n.*1880G>T)
n.4509G>T
c.2706G>T (p.Gln902His)
c.3465G>T (p.Gln1155His)
c.*3170G>T (n.*3170G>T)
n.3316G>T
c.*3248G>T (n.*3248G>T)
n.407G>T
c.3555G>T (p.Gln1185His)
c.3513G>T (p.Gln1171His)
c.3777G>T (p.Gln1259His)
c.3699G>T (p.Gln1233His)
c.3666G>T (p.Gln1222His)
c.3675G>T (p.Gln1225His)
c.2685G>T (p.Gln895His)
1g.154584839C=CA2480931182ADARc.3542G= (n.3542G=)
c.3678G= (p.Gln1226=)
c.3531G= (p.Gln1177=)
c.3300G= (p.Gln1100=)
c.2763G= (p.Gln921=)
c.3648G= (p.Gln1216=)
n.2441G=
c.3570G= (p.Gln1190=)
n.3633G=
c.*1123G= (n.*1123G=)
n.4384G=
c.*814G= (n.*814G=)
c.*1880G= (n.*1880G=)
n.4509G=
c.2706G= (p.Gln902=)
c.3465G= (p.Gln1155=)
c.*3170G= (n.*3170G=)
n.3316G=
c.*3248G= (n.*3248G=)
n.407G=
c.3555G= (p.Gln1185=)
c.3513G= (p.Gln1171=)
c.3777G= (p.Gln1259=)
c.3699G= (p.Gln1233=)
c.3666G= (p.Gln1222=)
c.3675G= (p.Gln1225=)
c.2685G= (p.Gln895=)
1g.154584839C>GCA342634485ADARc.3542G>C (n.3542G>C)
c.3678G>C (p.Gln1226His)
c.3531G>C (p.Gln1177His)
c.3300G>C (p.Gln1100His)
c.2763G>C (p.Gln921His)
c.3648G>C (p.Gln1216His)
n.2441G>C
c.3570G>C (p.Gln1190His)
n.3633G>C
c.*1123G>C (n.*1123G>C)
n.4384G>C
c.*814G>C (n.*814G>C)
c.*1880G>C (n.*1880G>C)
n.4509G>C
c.2706G>C (p.Gln902His)
c.3465G>C (p.Gln1155His)
c.*3170G>C (n.*3170G>C)
n.3316G>C
c.*3248G>C (n.*3248G>C)
n.407G>C
c.3555G>C (p.Gln1185His)
c.3513G>C (p.Gln1171His)
c.3777G>C (p.Gln1259His)
c.3699G>C (p.Gln1233His)
c.3666G>C (p.Gln1222His)
c.3675G>C (p.Gln1225His)
c.2685G>C (p.Gln895His)
1g.154584839C>TCA421231322ADARc.3542G>A (n.3542G>A)
c.3678G>A (p.Gln1226=)
c.3531G>A (p.Gln1177=)
c.3300G>A (p.Gln1100=)
c.2763G>A (p.Gln921=)
c.3648G>A (p.Gln1216=)
n.2441G>A
c.3570G>A (p.Gln1190=)
n.3633G>A
c.*1123G>A (n.*1123G>A)
n.4384G>A
c.*814G>A (n.*814G>A)
c.*1880G>A (n.*1880G>A)
n.4509G>A
c.2706G>A (p.Gln902=)
c.3465G>A (p.Gln1155=)
c.*3170G>A (n.*3170G>A)
n.3316G>A
c.*3248G>A (n.*3248G>A)
n.407G>A
c.3555G>A (p.Gln1185=)
c.3513G>A (p.Gln1171=)
c.3777G>A (p.Gln1259=)
c.3699G>A (p.Gln1233=)
c.3666G>A (p.Gln1222=)
c.3675G>A (p.Gln1225=)
c.2685G>A (p.Gln895=)
 dbSNP gnomAD v2 gnomAD v4
1g.154584840T>ACA342634486ADARc.3541A>T (n.3541A>T)
c.3677A>T (p.Gln1226Leu)
c.3530A>T (p.Gln1177Leu)
c.3299A>T (p.Gln1100Leu)
c.2762A>T (p.Gln921Leu)
c.3647A>T (p.Gln1216Leu)
n.2440A>T
c.3569A>T (p.Gln1190Leu)
n.3632A>T
c.*1122A>T (n.*1122A>T)
n.4383A>T
c.*813A>T (n.*813A>T)
c.*1879A>T (n.*1879A>T)
n.4508A>T
c.2705A>T (p.Gln902Leu)
c.3464A>T (p.Gln1155Leu)
c.*3169A>T (n.*3169A>T)
n.3315A>T
c.*3247A>T (n.*3247A>T)
n.406A>T
c.3554A>T (p.Gln1185Leu)
c.3512A>T (p.Gln1171Leu)
c.3776A>T (p.Gln1259Leu)
c.3698A>T (p.Gln1233Leu)
c.3665A>T (p.Gln1222Leu)
c.3674A>T (p.Gln1225Leu)
c.2684A>T (p.Gln895Leu)
1g.154584840T>CCA30848556ADARc.3541A>G (n.3541A>G)
c.3677A>G (p.Gln1226Arg)
c.3530A>G (p.Gln1177Arg)
c.3299A>G (p.Gln1100Arg)
c.2762A>G (p.Gln921Arg)
c.3647A>G (p.Gln1216Arg)
n.2440A>G
c.3569A>G (p.Gln1190Arg)
n.3632A>G
c.*1122A>G (n.*1122A>G)
n.4383A>G
c.*813A>G (n.*813A>G)
c.*1879A>G (n.*1879A>G)
n.4508A>G
c.2705A>G (p.Gln902Arg)
c.3464A>G (p.Gln1155Arg)
c.*3169A>G (n.*3169A>G)
n.3315A>G
c.*3247A>G (n.*3247A>G)
n.406A>G
c.3554A>G (p.Gln1185Arg)
c.3512A>G (p.Gln1171Arg)
c.3776A>G (p.Gln1259Arg)
c.3698A>G (p.Gln1233Arg)
c.3665A>G (p.Gln1222Arg)
c.3674A>G (p.Gln1225Arg)
c.2684A>G (p.Gln895Arg)
 ClinVar dbSNP
1g.154584840T>GCA342634487ADARc.3541A>C (n.3541A>C)
c.3677A>C (p.Gln1226Pro)
c.3530A>C (p.Gln1177Pro)
c.3299A>C (p.Gln1100Pro)
c.2762A>C (p.Gln921Pro)
c.3647A>C (p.Gln1216Pro)
n.2440A>C
c.3569A>C (p.Gln1190Pro)
n.3632A>C
c.*1122A>C (n.*1122A>C)
n.4383A>C
c.*813A>C (n.*813A>C)
c.*1879A>C (n.*1879A>C)
n.4508A>C
c.2705A>C (p.Gln902Pro)
c.3464A>C (p.Gln1155Pro)
c.*3169A>C (n.*3169A>C)
n.3315A>C
c.*3247A>C (n.*3247A>C)
n.406A>C
c.3554A>C (p.Gln1185Pro)
c.3512A>C (p.Gln1171Pro)
c.3776A>C (p.Gln1259Pro)
c.3698A>C (p.Gln1233Pro)
c.3665A>C (p.Gln1222Pro)
c.3674A>C (p.Gln1225Pro)
c.2684A>C (p.Gln895Pro)
1g.154584840T=CA2480931184ADARc.3541A= (n.3541A=)
c.3677A= (p.Gln1226=)
c.3530A= (p.Gln1177=)
c.3299A= (p.Gln1100=)
c.2762A= (p.Gln921=)
c.3647A= (p.Gln1216=)
n.2440A=
c.3569A= (p.Gln1190=)
n.3632A=
c.*1122A= (n.*1122A=)
n.4383A=
c.*813A= (n.*813A=)
c.*1879A= (n.*1879A=)
n.4508A=
c.2705A= (p.Gln902=)
c.3464A= (p.Gln1155=)
c.*3169A= (n.*3169A=)
n.3315A=
c.*3247A= (n.*3247A=)
n.406A=
c.3554A= (p.Gln1185=)
c.3512A= (p.Gln1171=)
c.3776A= (p.Gln1259=)
c.3698A= (p.Gln1233=)
c.3665A= (p.Gln1222=)
c.3674A= (p.Gln1225=)
c.2684A= (p.Gln895=)
1g.154584840_154584841insTTTTTTTTCTTTTTAAGCCATAATTCA2480931183ADARc.3541_3542insATTATGGCTTAAAAAGAAAAAAAAA (n.3541_3542insATTATGGCTTAAAAAGAAAAAAAAA)
c.3677_3678insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1227LeufsTer35)
c.3530_3531insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1178LeufsTer35)
c.3299_3300insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1101LeufsTer35)
c.2762_2763insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu922LeufsTer35)
c.3647_3648insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1217LeufsTer35)
n.2440_2441insATTATGGCTTAAAAAGAAAAAAAAA
c.3569_3570insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1191LeufsTer35)
n.3632_3633insATTATGGCTTAAAAAGAAAAAAAAA
c.*1122_*1123insATTATGGCTTAAAAAGAAAAAAAAA (n.*1122_*1123insATTATGGCTTAAAAAGAAAAAAAAA)
n.4383_4384insATTATGGCTTAAAAAGAAAAAAAAA
c.*813_*814insATTATGGCTTAAAAAGAAAAAAAAA (n.*813_*814insATTATGGCTTAAAAAGAAAAAAAAA)
c.*1879_*1880insATTATGGCTTAAAAAGAAAAAAAAA (n.*1879_*1880insATTATGGCTTAAAAAGAAAAAAAAA)
n.4508_4509insATTATGGCTTAAAAAGAAAAAAAAA
c.2705_2706insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu903LeufsTer35)
c.3464_3465insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1156LeufsTer35)
c.*3169_*3170insATTATGGCTTAAAAAGAAAAAAAAA (n.*3169_*3170insATTATGGCTTAAAAAGAAAAAAAAA)
n.3315_3316insATTATGGCTTAAAAAGAAAAAAAAA
c.*3247_*3248insATTATGGCTTAAAAAGAAAAAAAAA (n.*3247_*3248insATTATGGCTTAAAAAGAAAAAAAAA)
n.406_407insATTATGGCTTAAAAAGAAAAAAAAA
c.3554_3555insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1186LeufsTer?)
c.3512_3513insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1172LeufsTer35)
c.3776_3777insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1260LeufsTer35)
c.3698_3699insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1234LeufsTer35)
c.3665_3666insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1223LeufsTer35)
c.3674_3675insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu1226LeufsTer35)
c.2684_2685insATTATGGCTTAAAAAGAAAAAAAAA (p.Glu896LeufsTer35)
 dbSNP
1g.154584841G>ACA342634488ADARc.3540C>T (n.3540C>T)
c.3676C>T (p.Gln1226Ter)
c.3529C>T (p.Gln1177Ter)
c.3298C>T (p.Gln1100Ter)
c.2761C>T (p.Gln921Ter)
c.3646C>T (p.Gln1216Ter)
n.2439C>T
c.3568C>T (p.Gln1190Ter)
n.3631C>T
c.*1121C>T (n.*1121C>T)
n.4382C>T
c.*812C>T (n.*812C>T)
c.*1878C>T (n.*1878C>T)
n.4507C>T
c.2704C>T (p.Gln902Ter)
c.3463C>T (p.Gln1155Ter)
c.*3168C>T (n.*3168C>T)
n.3314C>T
c.*3246C>T (n.*3246C>T)
n.405C>T
c.3553C>T (p.Gln1185Ter)
c.3511C>T (p.Gln1171Ter)
c.3775C>T (p.Gln1259Ter)
c.3697C>T (p.Gln1233Ter)
c.3664C>T (p.Gln1222Ter)
c.3673C>T (p.Gln1225Ter)
c.2683C>T (p.Gln895Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.154584841G>CCA342634489ADARc.3540C>G (n.3540C>G)
c.3676C>G (p.Gln1226Glu)
c.3529C>G (p.Gln1177Glu)
c.3298C>G (p.Gln1100Glu)
c.2761C>G (p.Gln921Glu)
c.3646C>G (p.Gln1216Glu)
n.2439C>G
c.3568C>G (p.Gln1190Glu)
n.3631C>G
c.*1121C>G (n.*1121C>G)
n.4382C>G
c.*812C>G (n.*812C>G)
c.*1878C>G (n.*1878C>G)
n.4507C>G
c.2704C>G (p.Gln902Glu)
c.3463C>G (p.Gln1155Glu)
c.*3168C>G (n.*3168C>G)
n.3314C>G
c.*3246C>G (n.*3246C>G)
n.405C>G
c.3553C>G (p.Gln1185Glu)
c.3511C>G (p.Gln1171Glu)
c.3775C>G (p.Gln1259Glu)
c.3697C>G (p.Gln1233Glu)
c.3664C>G (p.Gln1222Glu)
c.3673C>G (p.Gln1225Glu)
c.2683C>G (p.Gln895Glu)
1g.154584841G=CA2480931185ADARc.3540C= (n.3540C=)
c.3676C= (p.Gln1226=)
c.3529C= (p.Gln1177=)
c.3298C= (p.Gln1100=)
c.2761C= (p.Gln921=)
c.3646C= (p.Gln1216=)
n.2439C=
c.3568C= (p.Gln1190=)
n.3631C=
c.*1121C= (n.*1121C=)
n.4382C=
c.*812C= (n.*812C=)
c.*1878C= (n.*1878C=)
n.4507C=
c.2704C= (p.Gln902=)
c.3463C= (p.Gln1155=)
c.*3168C= (n.*3168C=)
n.3314C=
c.*3246C= (n.*3246C=)
n.405C=
c.3553C= (p.Gln1185=)
c.3511C= (p.Gln1171=)
c.3775C= (p.Gln1259=)
c.3697C= (p.Gln1233=)
c.3664C= (p.Gln1222=)
c.3673C= (p.Gln1225=)
c.2683C= (p.Gln895=)
1g.154584841G>TCA342634490ADARc.3540C>A (n.3540C>A)
c.3676C>A (p.Gln1226Lys)
c.3529C>A (p.Gln1177Lys)
c.3298C>A (p.Gln1100Lys)
c.2761C>A (p.Gln921Lys)
c.3646C>A (p.Gln1216Lys)
n.2439C>A
c.3568C>A (p.Gln1190Lys)
n.3631C>A
c.*1121C>A (n.*1121C>A)
n.4382C>A
c.*812C>A (n.*812C>A)
c.*1878C>A (n.*1878C>A)
n.4507C>A
c.2704C>A (p.Gln902Lys)
c.3463C>A (p.Gln1155Lys)
c.*3168C>A (n.*3168C>A)
n.3314C>A
c.*3246C>A (n.*3246C>A)
n.405C>A
c.3553C>A (p.Gln1185Lys)
c.3511C>A (p.Gln1171Lys)
c.3775C>A (p.Gln1259Lys)
c.3697C>A (p.Gln1233Lys)
c.3664C>A (p.Gln1222Lys)
c.3673C>A (p.Gln1225Lys)
c.2683C>A (p.Gln895Lys)
1g.154584842G>ACA421231326ADARc.3539C>T (n.3539C>T)
c.3675C>T (p.Pro1225=)
c.3528C>T (p.Pro1176=)
c.3297C>T (p.Pro1099=)
c.2760C>T (p.Pro920=)
c.3645C>T (p.Pro1215=)
n.2438C>T
c.3567C>T (p.Pro1189=)
n.3630C>T
c.*1120C>T (n.*1120C>T)
n.4381C>T
c.*811C>T (n.*811C>T)
c.*1877C>T (n.*1877C>T)
n.4506C>T
c.2703C>T (p.Pro901=)
c.3462C>T (p.Pro1154=)
c.*3167C>T (n.*3167C>T)
n.3313C>T
c.*3245C>T (n.*3245C>T)
n.404C>T
c.3552C>T (p.Pro1184=)
c.3510C>T (p.Pro1170=)
c.3774C>T (p.Pro1258=)
c.3696C>T (p.Pro1232=)
c.3663C>T (p.Pro1221=)
c.3672C>T (p.Pro1224=)
c.2682C>T (p.Pro894=)
 gnomAD v4
1g.154584842G>CCA10607784ADARc.3539C>G (n.3539C>G)
c.3675C>G (p.Pro1225=)
c.3528C>G (p.Pro1176=)
c.3297C>G (p.Pro1099=)
c.2760C>G (p.Pro920=)
c.3645C>G (p.Pro1215=)
n.2438C>G
c.3567C>G (p.Pro1189=)
n.3630C>G
c.*1120C>G (n.*1120C>G)
n.4381C>G
c.*811C>G (n.*811C>G)
c.*1877C>G (n.*1877C>G)
n.4506C>G
c.2703C>G (p.Pro901=)
c.3462C>G (p.Pro1154=)
c.*3167C>G (n.*3167C>G)
n.3313C>G
c.*3245C>G (n.*3245C>G)
n.404C>G
c.3552C>G (p.Pro1184=)
c.3510C>G (p.Pro1170=)
c.3774C>G (p.Pro1258=)
c.3696C>G (p.Pro1232=)
c.3663C>G (p.Pro1221=)
c.3672C>G (p.Pro1224=)
c.2682C>G (p.Pro894=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154584842G=CA2480931186ADARc.3539C= (n.3539C=)
c.3675C= (p.Pro1225=)
c.3528C= (p.Pro1176=)
c.3297C= (p.Pro1099=)
c.2760C= (p.Pro920=)
c.3645C= (p.Pro1215=)
n.2438C=
c.3567C= (p.Pro1189=)
n.3630C=
c.*1120C= (n.*1120C=)
n.4381C=
c.*811C= (n.*811C=)
c.*1877C= (n.*1877C=)
n.4506C=
c.2703C= (p.Pro901=)
c.3462C= (p.Pro1154=)
c.*3167C= (n.*3167C=)
n.3313C=
c.*3245C= (n.*3245C=)
n.404C=
c.3552C= (p.Pro1184=)
c.3510C= (p.Pro1170=)
c.3774C= (p.Pro1258=)
c.3696C= (p.Pro1232=)
c.3663C= (p.Pro1221=)
c.3672C= (p.Pro1224=)
c.2682C= (p.Pro894=)
1g.154584842G>TCA421231323ADARc.3539C>A (n.3539C>A)
c.3675C>A (p.Pro1225=)
c.3528C>A (p.Pro1176=)
c.3297C>A (p.Pro1099=)
c.2760C>A (p.Pro920=)
c.3645C>A (p.Pro1215=)
n.2438C>A
c.3567C>A (p.Pro1189=)
n.3630C>A
c.*1120C>A (n.*1120C>A)
n.4381C>A
c.*811C>A (n.*811C>A)
c.*1877C>A (n.*1877C>A)
n.4506C>A
c.2703C>A (p.Pro901=)
c.3462C>A (p.Pro1154=)
c.*3167C>A (n.*3167C>A)
n.3313C>A
c.*3245C>A (n.*3245C>A)
n.404C>A
c.3552C>A (p.Pro1184=)
c.3510C>A (p.Pro1170=)
c.3774C>A (p.Pro1258=)
c.3696C>A (p.Pro1232=)
c.3663C>A (p.Pro1221=)
c.3672C>A (p.Pro1224=)
c.2682C>A (p.Pro894=)
1g.154584843G>ACA342634491ADARc.3538C>T (n.3538C>T)
c.3674C>T (p.Pro1225Leu)
c.3527C>T (p.Pro1176Leu)
c.3296C>T (p.Pro1099Leu)
c.2759C>T (p.Pro920Leu)
c.3644C>T (p.Pro1215Leu)
n.2437C>T
c.3566C>T (p.Pro1189Leu)
n.3629C>T
c.*1119C>T (n.*1119C>T)
n.4380C>T
c.*810C>T (n.*810C>T)
c.*1876C>T (n.*1876C>T)
n.4505C>T
c.2702C>T (p.Pro901Leu)
c.3461C>T (p.Pro1154Leu)
c.*3166C>T (n.*3166C>T)
n.3312C>T
c.*3244C>T (n.*3244C>T)
n.403C>T
c.3551C>T (p.Pro1184Leu)
c.3509C>T (p.Pro1170Leu)
c.3773C>T (p.Pro1258Leu)
c.3695C>T (p.Pro1232Leu)
c.3662C>T (p.Pro1221Leu)
c.3671C>T (p.Pro1224Leu)
c.2681C>T (p.Pro894Leu)
1g.154584843G>CCA342634492ADARc.3538C>G (n.3538C>G)
c.3674C>G (p.Pro1225Arg)
c.3527C>G (p.Pro1176Arg)
c.3296C>G (p.Pro1099Arg)
c.2759C>G (p.Pro920Arg)
c.3644C>G (p.Pro1215Arg)
n.2437C>G
c.3566C>G (p.Pro1189Arg)
n.3629C>G
c.*1119C>G (n.*1119C>G)
n.4380C>G
c.*810C>G (n.*810C>G)
c.*1876C>G (n.*1876C>G)
n.4505C>G
c.2702C>G (p.Pro901Arg)
c.3461C>G (p.Pro1154Arg)
c.*3166C>G (n.*3166C>G)
n.3312C>G
c.*3244C>G (n.*3244C>G)
n.403C>G
c.3551C>G (p.Pro1184Arg)
c.3509C>G (p.Pro1170Arg)
c.3773C>G (p.Pro1258Arg)
c.3695C>G (p.Pro1232Arg)
c.3662C>G (p.Pro1221Arg)
c.3671C>G (p.Pro1224Arg)
c.2681C>G (p.Pro894Arg)
1g.154584843G=CA2480931187ADARc.3538C= (n.3538C=)
c.3674C= (p.Pro1225=)
c.3527C= (p.Pro1176=)
c.3296C= (p.Pro1099=)
c.2759C= (p.Pro920=)
c.3644C= (p.Pro1215=)
n.2437C=
c.3566C= (p.Pro1189=)
n.3629C=
c.*1119C= (n.*1119C=)
n.4380C=
c.*810C= (n.*810C=)
c.*1876C= (n.*1876C=)
n.4505C=
c.2702C= (p.Pro901=)
c.3461C= (p.Pro1154=)
c.*3166C= (n.*3166C=)
n.3312C=
c.*3244C= (n.*3244C=)
n.403C=
c.3551C= (p.Pro1184=)
c.3509C= (p.Pro1170=)
c.3773C= (p.Pro1258=)
c.3695C= (p.Pro1232=)
c.3662C= (p.Pro1221=)
c.3671C= (p.Pro1224=)
c.2681C= (p.Pro894=)
1g.154584843G>TCA342634493ADARc.3538C>A (n.3538C>A)
c.3674C>A (p.Pro1225His)
c.3527C>A (p.Pro1176His)
c.3296C>A (p.Pro1099His)
c.2759C>A (p.Pro920His)
c.3644C>A (p.Pro1215His)
n.2437C>A
c.3566C>A (p.Pro1189His)
n.3629C>A
c.*1119C>A (n.*1119C>A)
n.4380C>A
c.*810C>A (n.*810C>A)
c.*1876C>A (n.*1876C>A)
n.4505C>A
c.2702C>A (p.Pro901His)
c.3461C>A (p.Pro1154His)
c.*3166C>A (n.*3166C>A)
n.3312C>A
c.*3244C>A (n.*3244C>A)
n.403C>A
c.3551C>A (p.Pro1184His)
c.3509C>A (p.Pro1170His)
c.3773C>A (p.Pro1258His)
c.3695C>A (p.Pro1232His)
c.3662C>A (p.Pro1221His)
c.3671C>A (p.Pro1224His)
c.2681C>A (p.Pro894His)
 dbSNP
1g.154584844G>ACA342634495ADARc.3537C>T (n.3537C>T)
c.3673C>T (p.Pro1225Ser)
c.3526C>T (p.Pro1176Ser)
c.3295C>T (p.Pro1099Ser)
c.2758C>T (p.Pro920Ser)
c.3643C>T (p.Pro1215Ser)
n.2436C>T
c.3565C>T (p.Pro1189Ser)
n.3628C>T
c.*1118C>T (n.*1118C>T)
n.4379C>T
c.*809C>T (n.*809C>T)
c.*1875C>T (n.*1875C>T)
n.4504C>T
c.2701C>T (p.Pro901Ser)
c.3460C>T (p.Pro1154Ser)
c.*3165C>T (n.*3165C>T)
n.3311C>T
c.*3243C>T (n.*3243C>T)
n.402C>T
c.3550C>T (p.Pro1184Ser)
c.3508C>T (p.Pro1170Ser)
c.3772C>T (p.Pro1258Ser)
c.3694C>T (p.Pro1232Ser)
c.3661C>T (p.Pro1221Ser)
c.3670C>T (p.Pro1224Ser)
c.2680C>T (p.Pro894Ser)
1g.154584844G>CCA342634496ADARc.3537C>G (n.3537C>G)
c.3673C>G (p.Pro1225Ala)
c.3526C>G (p.Pro1176Ala)
c.3295C>G (p.Pro1099Ala)
c.2758C>G (p.Pro920Ala)
c.3643C>G (p.Pro1215Ala)
n.2436C>G
c.3565C>G (p.Pro1189Ala)
n.3628C>G
c.*1118C>G (n.*1118C>G)
n.4379C>G
c.*809C>G (n.*809C>G)
c.*1875C>G (n.*1875C>G)
n.4504C>G
c.2701C>G (p.Pro901Ala)
c.3460C>G (p.Pro1154Ala)
c.*3165C>G (n.*3165C>G)
n.3311C>G
c.*3243C>G (n.*3243C>G)
n.402C>G
c.3550C>G (p.Pro1184Ala)
c.3508C>G (p.Pro1170Ala)
c.3772C>G (p.Pro1258Ala)
c.3694C>G (p.Pro1232Ala)
c.3661C>G (p.Pro1221Ala)
c.3670C>G (p.Pro1224Ala)
c.2680C>G (p.Pro894Ala)
1g.154584844G>TCA342634494ADARc.3537C>A (n.3537C>A)
c.3673C>A (p.Pro1225Thr)
c.3526C>A (p.Pro1176Thr)
c.3295C>A (p.Pro1099Thr)
c.2758C>A (p.Pro920Thr)
c.3643C>A (p.Pro1215Thr)
n.2436C>A
c.3565C>A (p.Pro1189Thr)
n.3628C>A
c.*1118C>A (n.*1118C>A)
n.4379C>A
c.*809C>A (n.*809C>A)
c.*1875C>A (n.*1875C>A)
n.4504C>A
c.2701C>A (p.Pro901Thr)
c.3460C>A (p.Pro1154Thr)
c.*3165C>A (n.*3165C>A)
n.3311C>A
c.*3243C>A (n.*3243C>A)
n.402C>A
c.3550C>A (p.Pro1184Thr)
c.3508C>A (p.Pro1170Thr)
c.3772C>A (p.Pro1258Thr)
c.3694C>A (p.Pro1232Thr)
c.3661C>A (p.Pro1221Thr)
c.3670C>A (p.Pro1224Thr)
c.2680C>A (p.Pro894Thr)
 gnomAD v4
1g.154584845T>ACA342634498ADARc.3536A>T (n.3536A>T)
c.3672A>T (p.Lys1224Asn)
c.3525A>T (p.Lys1175Asn)
c.3294A>T (p.Lys1098Asn)
c.2757A>T (p.Lys919Asn)
c.3642A>T (p.Lys1214Asn)
n.2435A>T
c.3564A>T (p.Lys1188Asn)
n.3627A>T
c.*1117A>T (n.*1117A>T)
n.4378A>T
c.*808A>T (n.*808A>T)
c.*1874A>T (n.*1874A>T)
n.4503A>T
c.2700A>T (p.Lys900Asn)
c.3459A>T (p.Lys1153Asn)
c.*3164A>T (n.*3164A>T)
n.3310A>T
c.*3242A>T (n.*3242A>T)
n.401A>T
c.3549A>T (p.Lys1183Asn)
c.3507A>T (p.Lys1169Asn)
c.3771A>T (p.Lys1257Asn)
c.3693A>T (p.Lys1231Asn)
c.3660A>T (p.Lys1220Asn)
c.3669A>T (p.Lys1223Asn)
c.2679A>T (p.Lys893Asn)
1g.154584845T>CCA421231335ADARc.3536A>G (n.3536A>G)
c.3672A>G (p.Lys1224=)
c.3525A>G (p.Lys1175=)
c.3294A>G (p.Lys1098=)
c.2757A>G (p.Lys919=)
c.3642A>G (p.Lys1214=)
n.2435A>G
c.3564A>G (p.Lys1188=)
n.3627A>G
c.*1117A>G (n.*1117A>G)
n.4378A>G
c.*808A>G (n.*808A>G)
c.*1874A>G (n.*1874A>G)
n.4503A>G
c.2700A>G (p.Lys900=)
c.3459A>G (p.Lys1153=)
c.*3164A>G (n.*3164A>G)
n.3310A>G
c.*3242A>G (n.*3242A>G)
n.401A>G
c.3549A>G (p.Lys1183=)
c.3507A>G (p.Lys1169=)
c.3771A>G (p.Lys1257=)
c.3693A>G (p.Lys1231=)
c.3660A>G (p.Lys1220=)
c.3669A>G (p.Lys1223=)
c.2679A>G (p.Lys893=)
1g.154584845T>GCA342634497ADARc.3536A>C (n.3536A>C)
c.3672A>C (p.Lys1224Asn)
c.3525A>C (p.Lys1175Asn)
c.3294A>C (p.Lys1098Asn)
c.2757A>C (p.Lys919Asn)
c.3642A>C (p.Lys1214Asn)
n.2435A>C
c.3564A>C (p.Lys1188Asn)
n.3627A>C
c.*1117A>C (n.*1117A>C)
n.4378A>C
c.*808A>C (n.*808A>C)
c.*1874A>C (n.*1874A>C)
n.4503A>C
c.2700A>C (p.Lys900Asn)
c.3459A>C (p.Lys1153Asn)
c.*3164A>C (n.*3164A>C)
n.3310A>C
c.*3242A>C (n.*3242A>C)
n.401A>C
c.3549A>C (p.Lys1183Asn)
c.3507A>C (p.Lys1169Asn)
c.3771A>C (p.Lys1257Asn)
c.3693A>C (p.Lys1231Asn)
c.3660A>C (p.Lys1220Asn)
c.3669A>C (p.Lys1223Asn)
c.2679A>C (p.Lys893Asn)
1g.154584847delCA2648175427ADARc.3536del (n.3536del)
c.3672del (p.Lys1224AsnfsTer18)
c.3525del (p.Lys1175AsnfsTer18)
c.3294del (p.Lys1098AsnfsTer18)
c.2757del (p.Lys919AsnfsTer18)
c.3642del (p.Lys1214AsnfsTer18)
n.2435del
c.3564del (p.Lys1188AsnfsTer18)
n.3627del
c.*1117del (n.*1117del)
n.4378del
c.*808del (n.*808del)
c.*1874del (n.*1874del)
n.4503del
c.2700del (p.Lys900AsnfsTer18)
c.3459del (p.Lys1153AsnfsTer18)
c.*3164del (n.*3164del)
n.3310del
c.*3242del (n.*3242del)
n.401del
c.3549del (p.Lys1183AsnfsTer?)
c.3507del (p.Lys1169AsnfsTer18)
c.3771del (p.Lys1257AsnfsTer18)
c.3693del (p.Lys1231AsnfsTer18)
c.3660del (p.Lys1220AsnfsTer18)
c.3669del (p.Lys1223AsnfsTer18)
c.2679del (p.Lys893AsnfsTer18)
 gnomAD v4
1g.154584846T>ACA342634501ADARc.3535A>T (n.3535A>T)
c.3671A>T (p.Lys1224Ile)
c.3524A>T (p.Lys1175Ile)
c.3293A>T (p.Lys1098Ile)
c.2756A>T (p.Lys919Ile)
c.3641A>T (p.Lys1214Ile)
n.2434A>T
c.3563A>T (p.Lys1188Ile)
n.3626A>T
c.*1116A>T (n.*1116A>T)
n.4377A>T
c.*807A>T (n.*807A>T)
c.*1873A>T (n.*1873A>T)
n.4502A>T
c.2699A>T (p.Lys900Ile)
c.3458A>T (p.Lys1153Ile)
c.*3163A>T (n.*3163A>T)
n.3309A>T
c.*3241A>T (n.*3241A>T)
n.400A>T
c.3548A>T (p.Lys1183Ile)
c.3506A>T (p.Lys1169Ile)
c.3770A>T (p.Lys1257Ile)
c.3692A>T (p.Lys1231Ile)
c.3659A>T (p.Lys1220Ile)
c.3668A>T (p.Lys1223Ile)
c.2678A>T (p.Lys893Ile)
1g.154584846T>CCA342634499ADARc.3535A>G (n.3535A>G)
c.3671A>G (p.Lys1224Arg)
c.3524A>G (p.Lys1175Arg)
c.3293A>G (p.Lys1098Arg)
c.2756A>G (p.Lys919Arg)
c.3641A>G (p.Lys1214Arg)
n.2434A>G
c.3563A>G (p.Lys1188Arg)
n.3626A>G
c.*1116A>G (n.*1116A>G)
n.4377A>G
c.*807A>G (n.*807A>G)
c.*1873A>G (n.*1873A>G)
n.4502A>G
c.2699A>G (p.Lys900Arg)
c.3458A>G (p.Lys1153Arg)
c.*3163A>G (n.*3163A>G)
n.3309A>G
c.*3241A>G (n.*3241A>G)
n.400A>G
c.3548A>G (p.Lys1183Arg)
c.3506A>G (p.Lys1169Arg)
c.3770A>G (p.Lys1257Arg)
c.3692A>G (p.Lys1231Arg)
c.3659A>G (p.Lys1220Arg)
c.3668A>G (p.Lys1223Arg)
c.2678A>G (p.Lys893Arg)
 ClinVar gnomAD v4
1g.154584846T>GCA342634500ADARc.3535A>C (n.3535A>C)
c.3671A>C (p.Lys1224Thr)
c.3524A>C (p.Lys1175Thr)
c.3293A>C (p.Lys1098Thr)
c.2756A>C (p.Lys919Thr)
c.3641A>C (p.Lys1214Thr)
n.2434A>C
c.3563A>C (p.Lys1188Thr)
n.3626A>C
c.*1116A>C (n.*1116A>C)
n.4377A>C
c.*807A>C (n.*807A>C)
c.*1873A>C (n.*1873A>C)
n.4502A>C
c.2699A>C (p.Lys900Thr)
c.3458A>C (p.Lys1153Thr)
c.*3163A>C (n.*3163A>C)
n.3309A>C
c.*3241A>C (n.*3241A>C)
n.400A>C
c.3548A>C (p.Lys1183Thr)
c.3506A>C (p.Lys1169Thr)
c.3770A>C (p.Lys1257Thr)
c.3692A>C (p.Lys1231Thr)
c.3659A>C (p.Lys1220Thr)
c.3668A>C (p.Lys1223Thr)
c.2678A>C (p.Lys893Thr)
1g.154584847T>ACA342634502ADARc.3534A>T (n.3534A>T)
c.3670A>T (p.Lys1224Ter)
c.3523A>T (p.Lys1175Ter)
c.3292A>T (p.Lys1098Ter)
c.2755A>T (p.Lys919Ter)
c.3640A>T (p.Lys1214Ter)
n.2433A>T
c.3562A>T (p.Lys1188Ter)
n.3625A>T
c.*1115A>T (n.*1115A>T)
n.4376A>T
c.*806A>T (n.*806A>T)
c.*1872A>T (n.*1872A>T)
n.4501A>T
c.2698A>T (p.Lys900Ter)
c.3457A>T (p.Lys1153Ter)
c.*3162A>T (n.*3162A>T)
n.3308A>T
c.*3240A>T (n.*3240A>T)
n.399A>T
c.3547A>T (p.Lys1183Ter)
c.3505A>T (p.Lys1169Ter)
c.3769A>T (p.Lys1257Ter)
c.3691A>T (p.Lys1231Ter)
c.3658A>T (p.Lys1220Ter)
c.3667A>T (p.Lys1223Ter)
c.2677A>T (p.Lys893Ter)
1g.154584847T>CCA342634503ADARc.3534A>G (n.3534A>G)
c.3670A>G (p.Lys1224Glu)
c.3523A>G (p.Lys1175Glu)
c.3292A>G (p.Lys1098Glu)
c.2755A>G (p.Lys919Glu)
c.3640A>G (p.Lys1214Glu)
n.2433A>G
c.3562A>G (p.Lys1188Glu)
n.3625A>G
c.*1115A>G (n.*1115A>G)
n.4376A>G
c.*806A>G (n.*806A>G)
c.*1872A>G (n.*1872A>G)
n.4501A>G
c.2698A>G (p.Lys900Glu)
c.3457A>G (p.Lys1153Glu)
c.*3162A>G (n.*3162A>G)
n.3308A>G
c.*3240A>G (n.*3240A>G)
n.399A>G
c.3547A>G (p.Lys1183Glu)
c.3505A>G (p.Lys1169Glu)
c.3769A>G (p.Lys1257Glu)
c.3691A>G (p.Lys1231Glu)
c.3658A>G (p.Lys1220Glu)
c.3667A>G (p.Lys1223Glu)
c.2677A>G (p.Lys893Glu)
1g.154584847T>GCA342634504ADARc.3534A>C (n.3534A>C)
c.3670A>C (p.Lys1224Gln)
c.3523A>C (p.Lys1175Gln)
c.3292A>C (p.Lys1098Gln)
c.2755A>C (p.Lys919Gln)
c.3640A>C (p.Lys1214Gln)
n.2433A>C
c.3562A>C (p.Lys1188Gln)
n.3625A>C
c.*1115A>C (n.*1115A>C)
n.4376A>C
c.*806A>C (n.*806A>C)
c.*1872A>C (n.*1872A>C)
n.4501A>C
c.2698A>C (p.Lys900Gln)
c.3457A>C (p.Lys1153Gln)
c.*3162A>C (n.*3162A>C)
n.3308A>C
c.*3240A>C (n.*3240A>C)
n.399A>C
c.3547A>C (p.Lys1183Gln)
c.3505A>C (p.Lys1169Gln)
c.3769A>C (p.Lys1257Gln)
c.3691A>C (p.Lys1231Gln)
c.3658A>C (p.Lys1220Gln)
c.3667A>C (p.Lys1223Gln)
c.2677A>C (p.Lys893Gln)
1g.154584848G>ACA421231340ADARc.3533C>T (n.3533C>T)
c.3669C>T (p.Ser1223=)
c.3522C>T (p.Ser1174=)
c.3291C>T (p.Ser1097=)
c.2754C>T (p.Ser918=)
c.3639C>T (p.Ser1213=)
n.2432C>T
c.3561C>T (p.Ser1187=)
n.3624C>T
c.*1114C>T (n.*1114C>T)
n.4375C>T
c.*805C>T (n.*805C>T)
c.*1871C>T (n.*1871C>T)
n.4500C>T
c.2697C>T (p.Ser899=)
c.3456C>T (p.Ser1152=)
c.*3161C>T (n.*3161C>T)
n.3307C>T
c.*3239C>T (n.*3239C>T)
n.398C>T
c.3546C>T (p.Ser1182=)
c.3504C>T (p.Ser1168=)
c.3768C>T (p.Ser1256=)
c.3690C>T (p.Ser1230=)
c.3657C>T (p.Ser1219=)
c.3666C>T (p.Ser1222=)
c.2676C>T (p.Ser892=)
 dbSNP gnomAD v3 gnomAD v4
1g.154584848G>CCA342634505ADARc.3533C>G (n.3533C>G)
c.3669C>G (p.Ser1223Arg)
c.3522C>G (p.Ser1174Arg)
c.3291C>G (p.Ser1097Arg)
c.2754C>G (p.Ser918Arg)
c.3639C>G (p.Ser1213Arg)
n.2432C>G
c.3561C>G (p.Ser1187Arg)
n.3624C>G
c.*1114C>G (n.*1114C>G)
n.4375C>G
c.*805C>G (n.*805C>G)
c.*1871C>G (n.*1871C>G)
n.4500C>G
c.2697C>G (p.Ser899Arg)
c.3456C>G (p.Ser1152Arg)
c.*3161C>G (n.*3161C>G)
n.3307C>G
c.*3239C>G (n.*3239C>G)
n.398C>G
c.3546C>G (p.Ser1182Arg)
c.3504C>G (p.Ser1168Arg)
c.3768C>G (p.Ser1256Arg)
c.3690C>G (p.Ser1230Arg)
c.3657C>G (p.Ser1219Arg)
c.3666C>G (p.Ser1222Arg)
c.2676C>G (p.Ser892Arg)
1g.154584848G=CA2480931188ADARc.3533C= (n.3533C=)
c.3669C= (p.Ser1223=)
c.3522C= (p.Ser1174=)
c.3291C= (p.Ser1097=)
c.2754C= (p.Ser918=)
c.3639C= (p.Ser1213=)
n.2432C=
c.3561C= (p.Ser1187=)
n.3624C=
c.*1114C= (n.*1114C=)
n.4375C=
c.*805C= (n.*805C=)
c.*1871C= (n.*1871C=)
n.4500C=
c.2697C= (p.Ser899=)
c.3456C= (p.Ser1152=)
c.*3161C= (n.*3161C=)
n.3307C=
c.*3239C= (n.*3239C=)
n.398C=
c.3546C= (p.Ser1182=)
c.3504C= (p.Ser1168=)
c.3768C= (p.Ser1256=)
c.3690C= (p.Ser1230=)
c.3657C= (p.Ser1219=)
c.3666C= (p.Ser1222=)
c.2676C= (p.Ser892=)
1g.154584848G>TCA342634506ADARc.3533C>A (n.3533C>A)
c.3669C>A (p.Ser1223Arg)
c.3522C>A (p.Ser1174Arg)
c.3291C>A (p.Ser1097Arg)
c.2754C>A (p.Ser918Arg)
c.3639C>A (p.Ser1213Arg)
n.2432C>A
c.3561C>A (p.Ser1187Arg)
n.3624C>A
c.*1114C>A (n.*1114C>A)
n.4375C>A
c.*805C>A (n.*805C>A)
c.*1871C>A (n.*1871C>A)
n.4500C>A
c.2697C>A (p.Ser899Arg)
c.3456C>A (p.Ser1152Arg)
c.*3161C>A (n.*3161C>A)
n.3307C>A
c.*3239C>A (n.*3239C>A)
n.398C>A
c.3546C>A (p.Ser1182Arg)
c.3504C>A (p.Ser1168Arg)
c.3768C>A (p.Ser1256Arg)
c.3690C>A (p.Ser1230Arg)
c.3657C>A (p.Ser1219Arg)
c.3666C>A (p.Ser1222Arg)
c.2676C>A (p.Ser892Arg)
1g.154584849C>ACA342634507ADARc.3532G>T (n.3532G>T)
c.3668G>T (p.Ser1223Ile)
c.3521G>T (p.Ser1174Ile)
c.3290G>T (p.Ser1097Ile)
c.2753G>T (p.Ser918Ile)
c.3638G>T (p.Ser1213Ile)
n.2431G>T
c.3560G>T (p.Ser1187Ile)
n.3623G>T
c.*1113G>T (n.*1113G>T)
n.4374G>T
c.*804G>T (n.*804G>T)
c.*1870G>T (n.*1870G>T)
n.4499G>T
c.2696G>T (p.Ser899Ile)
c.3455G>T (p.Ser1152Ile)
c.*3160G>T (n.*3160G>T)
n.3306G>T
c.*3238G>T (n.*3238G>T)
n.397G>T
c.3545G>T (p.Ser1182Ile)
c.3503G>T (p.Ser1168Ile)
c.3767G>T (p.Ser1256Ile)
c.3689G>T (p.Ser1230Ile)
c.3656G>T (p.Ser1219Ile)
c.3665G>T (p.Ser1222Ile)
c.2675G>T (p.Ser892Ile)
1g.154584849C>GCA342634508ADARc.3532G>C (n.3532G>C)
c.3668G>C (p.Ser1223Thr)
c.3521G>C (p.Ser1174Thr)
c.3290G>C (p.Ser1097Thr)
c.2753G>C (p.Ser918Thr)
c.3638G>C (p.Ser1213Thr)
n.2431G>C
c.3560G>C (p.Ser1187Thr)
n.3623G>C
c.*1113G>C (n.*1113G>C)
n.4374G>C
c.*804G>C (n.*804G>C)
c.*1870G>C (n.*1870G>C)
n.4499G>C
c.2696G>C (p.Ser899Thr)
c.3455G>C (p.Ser1152Thr)
c.*3160G>C (n.*3160G>C)
n.3306G>C
c.*3238G>C (n.*3238G>C)
n.397G>C
c.3545G>C (p.Ser1182Thr)
c.3503G>C (p.Ser1168Thr)
c.3767G>C (p.Ser1256Thr)
c.3689G>C (p.Ser1230Thr)
c.3656G>C (p.Ser1219Thr)
c.3665G>C (p.Ser1222Thr)
c.2675G>C (p.Ser892Thr)
1g.154584849C>TCA342634509ADARc.3532G>A (n.3532G>A)
c.3668G>A (p.Ser1223Asn)
c.3521G>A (p.Ser1174Asn)
c.3290G>A (p.Ser1097Asn)
c.2753G>A (p.Ser918Asn)
c.3638G>A (p.Ser1213Asn)
n.2431G>A
c.3560G>A (p.Ser1187Asn)
n.3623G>A
c.*1113G>A (n.*1113G>A)
n.4374G>A
c.*804G>A (n.*804G>A)
c.*1870G>A (n.*1870G>A)
n.4499G>A
c.2696G>A (p.Ser899Asn)
c.3455G>A (p.Ser1152Asn)
c.*3160G>A (n.*3160G>A)
n.3306G>A
c.*3238G>A (n.*3238G>A)
n.397G>A
c.3545G>A (p.Ser1182Asn)
c.3503G>A (p.Ser1168Asn)
c.3767G>A (p.Ser1256Asn)
c.3689G>A (p.Ser1230Asn)
c.3656G>A (p.Ser1219Asn)
c.3665G>A (p.Ser1222Asn)
c.2675G>A (p.Ser892Asn)
1g.154584850T>ACA342634510ADARc.3531A>T (n.3531A>T)
c.3667A>T (p.Ser1223Cys)
c.3520A>T (p.Ser1174Cys)
c.3289A>T (p.Ser1097Cys)
c.2752A>T (p.Ser918Cys)
c.3637A>T (p.Ser1213Cys)
n.2430A>T
c.3559A>T (p.Ser1187Cys)
n.3622A>T
c.*1112A>T (n.*1112A>T)
n.4373A>T
c.*803A>T (n.*803A>T)
c.*1869A>T (n.*1869A>T)
n.4498A>T
c.2695A>T (p.Ser899Cys)
c.3454A>T (p.Ser1152Cys)
c.*3159A>T (n.*3159A>T)
n.3305A>T
c.*3237A>T (n.*3237A>T)
n.396A>T
c.3544A>T (p.Ser1182Cys)
c.3502A>T (p.Ser1168Cys)
c.3766A>T (p.Ser1256Cys)
c.3688A>T (p.Ser1230Cys)
c.3655A>T (p.Ser1219Cys)
c.3664A>T (p.Ser1222Cys)
c.2674A>T (p.Ser892Cys)
1g.154584850T>CCA342634511ADARc.3531A>G (n.3531A>G)
c.3667A>G (p.Ser1223Gly)
c.3520A>G (p.Ser1174Gly)
c.3289A>G (p.Ser1097Gly)
c.2752A>G (p.Ser918Gly)
c.3637A>G (p.Ser1213Gly)
n.2430A>G
c.3559A>G (p.Ser1187Gly)
n.3622A>G
c.*1112A>G (n.*1112A>G)
n.4373A>G
c.*803A>G (n.*803A>G)
c.*1869A>G (n.*1869A>G)
n.4498A>G
c.2695A>G (p.Ser899Gly)
c.3454A>G (p.Ser1152Gly)
c.*3159A>G (n.*3159A>G)
n.3305A>G
c.*3237A>G (n.*3237A>G)
n.396A>G
c.3544A>G (p.Ser1182Gly)
c.3502A>G (p.Ser1168Gly)
c.3766A>G (p.Ser1256Gly)
c.3688A>G (p.Ser1230Gly)
c.3655A>G (p.Ser1219Gly)
c.3664A>G (p.Ser1222Gly)
c.2674A>G (p.Ser892Gly)
1g.154584850T>GCA342634512ADARc.3531A>C (n.3531A>C)
c.3667A>C (p.Ser1223Arg)
c.3520A>C (p.Ser1174Arg)
c.3289A>C (p.Ser1097Arg)
c.2752A>C (p.Ser918Arg)
c.3637A>C (p.Ser1213Arg)
n.2430A>C
c.3559A>C (p.Ser1187Arg)
n.3622A>C
c.*1112A>C (n.*1112A>C)
n.4373A>C
c.*803A>C (n.*803A>C)
c.*1869A>C (n.*1869A>C)
n.4498A>C
c.2695A>C (p.Ser899Arg)
c.3454A>C (p.Ser1152Arg)
c.*3159A>C (n.*3159A>C)
n.3305A>C
c.*3237A>C (n.*3237A>C)
n.396A>C
c.3544A>C (p.Ser1182Arg)
c.3502A>C (p.Ser1168Arg)
c.3766A>C (p.Ser1256Arg)
c.3688A>C (p.Ser1230Arg)
c.3655A>C (p.Ser1219Arg)
c.3664A>C (p.Ser1222Arg)
c.2674A>C (p.Ser892Arg)
1g.154584851A>CCA342634513ADARc.3530T>G (n.3530T>G)
c.3666T>G (p.Ile1222Met)
c.3519T>G (p.Ile1173Met)
c.3288T>G (p.Ile1096Met)
c.2751T>G (p.Ile917Met)
c.3636T>G (p.Ile1212Met)
n.2429T>G
c.3558T>G (p.Ile1186Met)
n.3621T>G
c.*1111T>G (n.*1111T>G)
n.4372T>G
c.*802T>G (n.*802T>G)
c.*1868T>G (n.*1868T>G)
n.4497T>G
c.2694T>G (p.Ile898Met)
c.3453T>G (p.Ile1151Met)
c.*3158T>G (n.*3158T>G)
n.3304T>G
c.*3236T>G (n.*3236T>G)
n.395T>G
c.3543T>G (p.Ile1181Met)
c.3501T>G (p.Ile1167Met)
c.3765T>G (p.Ile1255Met)
c.3687T>G (p.Ile1229Met)
c.3654T>G (p.Ile1218Met)
c.3663T>G (p.Ile1221Met)
c.2673T>G (p.Ile891Met)
1g.154584851A>GCA421231347ADARc.3530T>C (n.3530T>C)
c.3666T>C (p.Ile1222=)
c.3519T>C (p.Ile1173=)
c.3288T>C (p.Ile1096=)
c.2751T>C (p.Ile917=)
c.3636T>C (p.Ile1212=)
n.2429T>C
c.3558T>C (p.Ile1186=)
n.3621T>C
c.*1111T>C (n.*1111T>C)
n.4372T>C
c.*802T>C (n.*802T>C)
c.*1868T>C (n.*1868T>C)
n.4497T>C
c.2694T>C (p.Ile898=)
c.3453T>C (p.Ile1151=)
c.*3158T>C (n.*3158T>C)
n.3304T>C
c.*3236T>C (n.*3236T>C)
n.395T>C
c.3543T>C (p.Ile1181=)
c.3501T>C (p.Ile1167=)
c.3765T>C (p.Ile1255=)
c.3687T>C (p.Ile1229=)
c.3654T>C (p.Ile1218=)
c.3663T>C (p.Ile1221=)
c.2673T>C (p.Ile891=)
 ClinVar
1g.154584851A>TCA421231349ADARc.3530T>A (n.3530T>A)
c.3666T>A (p.Ile1222=)
c.3519T>A (p.Ile1173=)
c.3288T>A (p.Ile1096=)
c.2751T>A (p.Ile917=)
c.3636T>A (p.Ile1212=)
n.2429T>A
c.3558T>A (p.Ile1186=)
n.3621T>A
c.*1111T>A (n.*1111T>A)
n.4372T>A
c.*802T>A (n.*802T>A)
c.*1868T>A (n.*1868T>A)
n.4497T>A
c.2694T>A (p.Ile898=)
c.3453T>A (p.Ile1151=)
c.*3158T>A (n.*3158T>A)
n.3304T>A
c.*3236T>A (n.*3236T>A)
n.395T>A
c.3543T>A (p.Ile1181=)
c.3501T>A (p.Ile1167=)
c.3765T>A (p.Ile1255=)
c.3687T>A (p.Ile1229=)
c.3654T>A (p.Ile1218=)
c.3663T>A (p.Ile1221=)
c.2673T>A (p.Ile891=)
1g.154584852A>CCA342634514ADARc.3529T>G (n.3529T>G)
c.3665T>G (p.Ile1222Ser)
c.3518T>G (p.Ile1173Ser)
c.3287T>G (p.Ile1096Ser)
c.2750T>G (p.Ile917Ser)
c.3635T>G (p.Ile1212Ser)
n.2428T>G
c.3557T>G (p.Ile1186Ser)
n.3620T>G
c.*1110T>G (n.*1110T>G)
n.4371T>G
c.*801T>G (n.*801T>G)
c.*1867T>G (n.*1867T>G)
n.4496T>G
c.2693T>G (p.Ile898Ser)
c.3452T>G (p.Ile1151Ser)
c.*3157T>G (n.*3157T>G)
n.3303T>G
c.*3235T>G (n.*3235T>G)
n.394T>G
c.3542T>G (p.Ile1181Ser)
c.3500T>G (p.Ile1167Ser)
c.3764T>G (p.Ile1255Ser)
c.3686T>G (p.Ile1229Ser)
c.3653T>G (p.Ile1218Ser)
c.3662T>G (p.Ile1221Ser)
c.2672T>G (p.Ile891Ser)
1g.154584852A>GCA342634515ADARc.3529T>C (n.3529T>C)
c.3665T>C (p.Ile1222Thr)
c.3518T>C (p.Ile1173Thr)
c.3287T>C (p.Ile1096Thr)
c.2750T>C (p.Ile917Thr)
c.3635T>C (p.Ile1212Thr)
n.2428T>C
c.3557T>C (p.Ile1186Thr)
n.3620T>C
c.*1110T>C (n.*1110T>C)
n.4371T>C
c.*801T>C (n.*801T>C)
c.*1867T>C (n.*1867T>C)
n.4496T>C
c.2693T>C (p.Ile898Thr)
c.3452T>C (p.Ile1151Thr)
c.*3157T>C (n.*3157T>C)
n.3303T>C
c.*3235T>C (n.*3235T>C)
n.394T>C
c.3542T>C (p.Ile1181Thr)
c.3500T>C (p.Ile1167Thr)
c.3764T>C (p.Ile1255Thr)
c.3686T>C (p.Ile1229Thr)
c.3653T>C (p.Ile1218Thr)
c.3662T>C (p.Ile1221Thr)
c.2672T>C (p.Ile891Thr)
1g.154584852A>TCA342634516ADARc.3529T>A (n.3529T>A)
c.3665T>A (p.Ile1222Asn)
c.3518T>A (p.Ile1173Asn)
c.3287T>A (p.Ile1096Asn)
c.2750T>A (p.Ile917Asn)
c.3635T>A (p.Ile1212Asn)
n.2428T>A
c.3557T>A (p.Ile1186Asn)
n.3620T>A
c.*1110T>A (n.*1110T>A)
n.4371T>A
c.*801T>A (n.*801T>A)
c.*1867T>A (n.*1867T>A)
n.4496T>A
c.2693T>A (p.Ile898Asn)
c.3452T>A (p.Ile1151Asn)
c.*3157T>A (n.*3157T>A)
n.3303T>A
c.*3235T>A (n.*3235T>A)
n.394T>A
c.3542T>A (p.Ile1181Asn)
c.3500T>A (p.Ile1167Asn)
c.3764T>A (p.Ile1255Asn)
c.3686T>A (p.Ile1229Asn)
c.3653T>A (p.Ile1218Asn)
c.3662T>A (p.Ile1221Asn)
c.2672T>A (p.Ile891Asn)
1g.154584853T>ACA342634517ADARc.3528A>T (n.3528A>T)
c.3664A>T (p.Ile1222Phe)
c.3517A>T (p.Ile1173Phe)
c.3286A>T (p.Ile1096Phe)
c.2749A>T (p.Ile917Phe)
c.3634A>T (p.Ile1212Phe)
n.2427A>T
c.3556A>T (p.Ile1186Phe)
n.3619A>T
c.*1109A>T (n.*1109A>T)
n.4370A>T
c.*800A>T (n.*800A>T)
c.*1866A>T (n.*1866A>T)
n.4495A>T
c.2692A>T (p.Ile898Phe)
c.3451A>T (p.Ile1151Phe)
c.*3156A>T (n.*3156A>T)
n.3302A>T
c.*3234A>T (n.*3234A>T)
n.393A>T
c.3541A>T (p.Ile1181Phe)
c.3499A>T (p.Ile1167Phe)
c.3763A>T (p.Ile1255Phe)
c.3685A>T (p.Ile1229Phe)
c.3652A>T (p.Ile1218Phe)
c.3661A>T (p.Ile1221Phe)
c.2671A>T (p.Ile891Phe)
1g.154584853T>CCA342634518ADARc.3528A>G (n.3528A>G)
c.3664A>G (p.Ile1222Val)
c.3517A>G (p.Ile1173Val)
c.3286A>G (p.Ile1096Val)
c.2749A>G (p.Ile917Val)
c.3634A>G (p.Ile1212Val)
n.2427A>G
c.3556A>G (p.Ile1186Val)
n.3619A>G
c.*1109A>G (n.*1109A>G)
n.4370A>G
c.*800A>G (n.*800A>G)
c.*1866A>G (n.*1866A>G)
n.4495A>G
c.2692A>G (p.Ile898Val)
c.3451A>G (p.Ile1151Val)
c.*3156A>G (n.*3156A>G)
n.3302A>G
c.*3234A>G (n.*3234A>G)
n.393A>G
c.3541A>G (p.Ile1181Val)
c.3499A>G (p.Ile1167Val)
c.3763A>G (p.Ile1255Val)
c.3685A>G (p.Ile1229Val)
c.3652A>G (p.Ile1218Val)
c.3661A>G (p.Ile1221Val)
c.2671A>G (p.Ile891Val)
 ClinVar dbSNP
1g.154584853T>GCA342634519ADARc.3528A>C (n.3528A>C)
c.3664A>C (p.Ile1222Leu)
c.3517A>C (p.Ile1173Leu)
c.3286A>C (p.Ile1096Leu)
c.2749A>C (p.Ile917Leu)
c.3634A>C (p.Ile1212Leu)
n.2427A>C
c.3556A>C (p.Ile1186Leu)
n.3619A>C
c.*1109A>C (n.*1109A>C)
n.4370A>C
c.*800A>C (n.*800A>C)
c.*1866A>C (n.*1866A>C)
n.4495A>C
c.2692A>C (p.Ile898Leu)
c.3451A>C (p.Ile1151Leu)
c.*3156A>C (n.*3156A>C)
n.3302A>C
c.*3234A>C (n.*3234A>C)
n.393A>C
c.3541A>C (p.Ile1181Leu)
c.3499A>C (p.Ile1167Leu)
c.3763A>C (p.Ile1255Leu)
c.3685A>C (p.Ile1229Leu)
c.3652A>C (p.Ile1218Leu)
c.3661A>C (p.Ile1221Leu)
c.2671A>C (p.Ile891Leu)
1g.154584853T=CA2480931189ADARc.3528A= (n.3528A=)
c.3664A= (p.Ile1222=)
c.3517A= (p.Ile1173=)
c.3286A= (p.Ile1096=)
c.2749A= (p.Ile917=)
c.3634A= (p.Ile1212=)
n.2427A=
c.3556A= (p.Ile1186=)
n.3619A=
c.*1109A= (n.*1109A=)
n.4370A=
c.*800A= (n.*800A=)
c.*1866A= (n.*1866A=)
n.4495A=
c.2692A= (p.Ile898=)
c.3451A= (p.Ile1151=)
c.*3156A= (n.*3156A=)
n.3302A=
c.*3234A= (n.*3234A=)
n.393A=
c.3541A= (p.Ile1181=)
c.3499A= (p.Ile1167=)
c.3763A= (p.Ile1255=)
c.3685A= (p.Ile1229=)
c.3652A= (p.Ile1218=)
c.3661A= (p.Ile1221=)
c.2671A= (p.Ile891=)
1g.154584854C>ACA342634520ADARc.3527G>T (n.3527G>T)
c.3663G>T (p.Trp1221Cys)
c.3516G>T (p.Trp1172Cys)
c.3285G>T (p.Trp1095Cys)
c.2748G>T (p.Trp916Cys)
c.3633G>T (p.Trp1211Cys)
n.2426G>T
c.3555G>T (p.Trp1185Cys)
n.3618G>T
c.*1108G>T (n.*1108G>T)
n.4369G>T
c.*799G>T (n.*799G>T)
c.*1865G>T (n.*1865G>T)
n.4494G>T
c.2691G>T (p.Trp897Cys)
c.3450G>T (p.Trp1150Cys)
c.*3155G>T (n.*3155G>T)
n.3301G>T
c.*3233G>T (n.*3233G>T)
n.392G>T
c.3540G>T (p.Trp1180Cys)
c.3498G>T (p.Trp1166Cys)
c.3762G>T (p.Trp1254Cys)
c.3684G>T (p.Trp1228Cys)
c.3651G>T (p.Trp1217Cys)
c.3660G>T (p.Trp1220Cys)
c.2670G>T (p.Trp890Cys)
1g.154584854C>GCA342634521ADARc.3527G>C (n.3527G>C)
c.3663G>C (p.Trp1221Cys)
c.3516G>C (p.Trp1172Cys)
c.3285G>C (p.Trp1095Cys)
c.2748G>C (p.Trp916Cys)
c.3633G>C (p.Trp1211Cys)
n.2426G>C
c.3555G>C (p.Trp1185Cys)
n.3618G>C
c.*1108G>C (n.*1108G>C)
n.4369G>C
c.*799G>C (n.*799G>C)
c.*1865G>C (n.*1865G>C)
n.4494G>C
c.2691G>C (p.Trp897Cys)
c.3450G>C (p.Trp1150Cys)
c.*3155G>C (n.*3155G>C)
n.3301G>C
c.*3233G>C (n.*3233G>C)
n.392G>C
c.3540G>C (p.Trp1180Cys)
c.3498G>C (p.Trp1166Cys)
c.3762G>C (p.Trp1254Cys)
c.3684G>C (p.Trp1228Cys)
c.3651G>C (p.Trp1217Cys)
c.3660G>C (p.Trp1220Cys)
c.2670G>C (p.Trp890Cys)
 gnomAD v4
1g.154584854C>TCA342634522ADARc.3527G>A (n.3527G>A)
c.3663G>A (p.Trp1221Ter)
c.3516G>A (p.Trp1172Ter)
c.3285G>A (p.Trp1095Ter)
c.2748G>A (p.Trp916Ter)
c.3633G>A (p.Trp1211Ter)
n.2426G>A
c.3555G>A (p.Trp1185Ter)
n.3618G>A
c.*1108G>A (n.*1108G>A)
n.4369G>A
c.*799G>A (n.*799G>A)
c.*1865G>A (n.*1865G>A)
n.4494G>A
c.2691G>A (p.Trp897Ter)
c.3450G>A (p.Trp1150Ter)
c.*3155G>A (n.*3155G>A)
n.3301G>A
c.*3233G>A (n.*3233G>A)
n.392G>A
c.3540G>A (p.Trp1180Ter)
c.3498G>A (p.Trp1166Ter)
c.3762G>A (p.Trp1254Ter)
c.3684G>A (p.Trp1228Ter)
c.3651G>A (p.Trp1217Ter)
c.3660G>A (p.Trp1220Ter)
c.2670G>A (p.Trp890Ter)
1g.154584855delCA2740090375ADARc.3527del (n.3527del)
c.3663del (p.Trp1221Ter)
c.3516del (p.Trp1172Ter)
c.3285del (p.Trp1095Ter)
c.2748del (p.Trp916Ter)
c.3633del (p.Trp1211Ter)
n.2426del
c.3555del (p.Trp1185Ter)
n.3618del
c.*1108del (n.*1108del)
n.4369del
c.*799del (n.*799del)
c.*1865del (n.*1865del)
n.4494del
c.2691del (p.Trp897Ter)
c.3450del (p.Trp1150Ter)
c.*3155del (n.*3155del)
n.3301del
c.*3233del (n.*3233del)
n.392del
c.3540del (p.Trp1180Ter)
c.3498del (p.Trp1166Ter)
c.3762del (p.Trp1254Ter)
c.3684del (p.Trp1228Ter)
c.3651del (p.Trp1217Ter)
c.3660del (p.Trp1220Ter)
c.2670del (p.Trp890Ter)
 ClinVar
1g.154584855C>ACA342634523ADARc.3526G>T (n.3526G>T)
c.3662G>T (p.Trp1221Leu)
c.3515G>T (p.Trp1172Leu)
c.3284G>T (p.Trp1095Leu)
c.2747G>T (p.Trp916Leu)
c.3632G>T (p.Trp1211Leu)
n.2425G>T
c.3554G>T (p.Trp1185Leu)
n.3617G>T
c.*1107G>T (n.*1107G>T)
n.4368G>T
c.*798G>T (n.*798G>T)
c.*1864G>T (n.*1864G>T)
n.4493G>T
c.2690G>T (p.Trp897Leu)
c.3449G>T (p.Trp1150Leu)
c.*3154G>T (n.*3154G>T)
n.3300G>T
c.*3232G>T (n.*3232G>T)
n.391G>T
c.3539G>T (p.Trp1180Leu)
c.3497G>T (p.Trp1166Leu)
c.3761G>T (p.Trp1254Leu)
c.3683G>T (p.Trp1228Leu)
c.3650G>T (p.Trp1217Leu)
c.3659G>T (p.Trp1220Leu)
c.2669G>T (p.Trp890Leu)
 ClinVar dbSNP
1g.154584855C>GCA342634524ADARc.3526G>C (n.3526G>C)
c.3662G>C (p.Trp1221Ser)
c.3515G>C (p.Trp1172Ser)
c.3284G>C (p.Trp1095Ser)
c.2747G>C (p.Trp916Ser)
c.3632G>C (p.Trp1211Ser)
n.2425G>C
c.3554G>C (p.Trp1185Ser)
n.3617G>C
c.*1107G>C (n.*1107G>C)
n.4368G>C
c.*798G>C (n.*798G>C)
c.*1864G>C (n.*1864G>C)
n.4493G>C
c.2690G>C (p.Trp897Ser)
c.3449G>C (p.Trp1150Ser)
c.*3154G>C (n.*3154G>C)
n.3300G>C
c.*3232G>C (n.*3232G>C)
n.391G>C
c.3539G>C (p.Trp1180Ser)
c.3497G>C (p.Trp1166Ser)
c.3761G>C (p.Trp1254Ser)
c.3683G>C (p.Trp1228Ser)
c.3650G>C (p.Trp1217Ser)
c.3659G>C (p.Trp1220Ser)
c.2669G>C (p.Trp890Ser)
1g.154584855C>TCA342634525ADARc.3526G>A (n.3526G>A)
c.3662G>A (p.Trp1221Ter)
c.3515G>A (p.Trp1172Ter)
c.3284G>A (p.Trp1095Ter)
c.2747G>A (p.Trp916Ter)
c.3632G>A (p.Trp1211Ter)
n.2425G>A
c.3554G>A (p.Trp1185Ter)
n.3617G>A
c.*1107G>A (n.*1107G>A)
n.4368G>A
c.*798G>A (n.*798G>A)
c.*1864G>A (n.*1864G>A)
n.4493G>A
c.2690G>A (p.Trp897Ter)
c.3449G>A (p.Trp1150Ter)
c.*3154G>A (n.*3154G>A)
n.3300G>A
c.*3232G>A (n.*3232G>A)
n.391G>A
c.3539G>A (p.Trp1180Ter)
c.3497G>A (p.Trp1166Ter)
c.3761G>A (p.Trp1254Ter)
c.3683G>A (p.Trp1228Ter)
c.3650G>A (p.Trp1217Ter)
c.3659G>A (p.Trp1220Ter)
c.2669G>A (p.Trp890Ter)
1g.154584856A>CCA342634528ADARc.3525T>G (n.3525T>G)
c.3661T>G (p.Trp1221Gly)
c.3514T>G (p.Trp1172Gly)
c.3283T>G (p.Trp1095Gly)
c.2746T>G (p.Trp916Gly)
c.3631T>G (p.Trp1211Gly)
n.2424T>G
c.3553T>G (p.Trp1185Gly)
n.3616T>G
c.*1106T>G (n.*1106T>G)
n.4367T>G
c.*797T>G (n.*797T>G)
c.*1863T>G (n.*1863T>G)
n.4492T>G
c.2689T>G (p.Trp897Gly)
c.3448T>G (p.Trp1150Gly)
c.*3153T>G (n.*3153T>G)
n.3299T>G
c.*3231T>G (n.*3231T>G)
n.390T>G
c.3538T>G (p.Trp1180Gly)
c.3496T>G (p.Trp1166Gly)
c.3760T>G (p.Trp1254Gly)
c.3682T>G (p.Trp1228Gly)
c.3649T>G (p.Trp1217Gly)
c.3658T>G (p.Trp1220Gly)
c.2668T>G (p.Trp890Gly)
1g.154584856A>GCA342634527ADARc.3525T>C (n.3525T>C)
c.3661T>C (p.Trp1221Arg)
c.3514T>C (p.Trp1172Arg)
c.3283T>C (p.Trp1095Arg)
c.2746T>C (p.Trp916Arg)
c.3631T>C (p.Trp1211Arg)
n.2424T>C
c.3553T>C (p.Trp1185Arg)
n.3616T>C
c.*1106T>C (n.*1106T>C)
n.4367T>C
c.*797T>C (n.*797T>C)
c.*1863T>C (n.*1863T>C)
n.4492T>C
c.2689T>C (p.Trp897Arg)
c.3448T>C (p.Trp1150Arg)
c.*3153T>C (n.*3153T>C)
n.3299T>C
c.*3231T>C (n.*3231T>C)
n.390T>C
c.3538T>C (p.Trp1180Arg)
c.3496T>C (p.Trp1166Arg)
c.3760T>C (p.Trp1254Arg)
c.3682T>C (p.Trp1228Arg)
c.3649T>C (p.Trp1217Arg)
c.3658T>C (p.Trp1220Arg)
c.2668T>C (p.Trp890Arg)
1g.154584856A>TCA342634526ADARc.3525T>A (n.3525T>A)
c.3661T>A (p.Trp1221Arg)
c.3514T>A (p.Trp1172Arg)
c.3283T>A (p.Trp1095Arg)
c.2746T>A (p.Trp916Arg)
c.3631T>A (p.Trp1211Arg)
n.2424T>A
c.3553T>A (p.Trp1185Arg)
n.3616T>A
c.*1106T>A (n.*1106T>A)
n.4367T>A
c.*797T>A (n.*797T>A)
c.*1863T>A (n.*1863T>A)
n.4492T>A
c.2689T>A (p.Trp897Arg)
c.3448T>A (p.Trp1150Arg)
c.*3153T>A (n.*3153T>A)
n.3299T>A
c.*3231T>A (n.*3231T>A)
n.390T>A
c.3538T>A (p.Trp1180Arg)
c.3496T>A (p.Trp1166Arg)
c.3760T>A (p.Trp1254Arg)
c.3682T>A (p.Trp1228Arg)
c.3649T>A (p.Trp1217Arg)
c.3658T>A (p.Trp1220Arg)
c.2668T>A (p.Trp890Arg)
1g.154584857G>ACA421231367ADARc.3524C>T (n.3524C>T)
c.3660C>T (p.Asn1220=)
c.3513C>T (p.Asn1171=)
c.3282C>T (p.Asn1094=)
c.2745C>T (p.Asn915=)
c.3630C>T (p.Asn1210=)
n.2423C>T
c.3552C>T (p.Asn1184=)
n.3615C>T
c.*1105C>T (n.*1105C>T)
n.4366C>T
c.*796C>T (n.*796C>T)
c.*1862C>T (n.*1862C>T)
n.4491C>T
c.2688C>T (p.Asn896=)
c.3447C>T (p.Asn1149=)
c.*3152C>T (n.*3152C>T)
n.3298C>T
c.*3230C>T (n.*3230C>T)
n.389C>T
c.3537C>T (p.Asn1179=)
c.3495C>T (p.Asn1165=)
c.3759C>T (p.Asn1253=)
c.3681C>T (p.Asn1227=)
c.3648C>T (p.Asn1216=)
c.3657C>T (p.Asn1219=)
c.2667C>T (p.Asn889=)
 dbSNP gnomAD v3 gnomAD v4
1g.154584857G>CCA342634529ADARc.3524C>G (n.3524C>G)
c.3660C>G (p.Asn1220Lys)
c.3513C>G (p.Asn1171Lys)
c.3282C>G (p.Asn1094Lys)
c.2745C>G (p.Asn915Lys)
c.3630C>G (p.Asn1210Lys)
n.2423C>G
c.3552C>G (p.Asn1184Lys)
n.3615C>G
c.*1105C>G (n.*1105C>G)
n.4366C>G
c.*796C>G (n.*796C>G)
c.*1862C>G (n.*1862C>G)
n.4491C>G
c.2688C>G (p.Asn896Lys)
c.3447C>G (p.Asn1149Lys)
c.*3152C>G (n.*3152C>G)
n.3298C>G
c.*3230C>G (n.*3230C>G)
n.389C>G
c.3537C>G (p.Asn1179Lys)
c.3495C>G (p.Asn1165Lys)
c.3759C>G (p.Asn1253Lys)
c.3681C>G (p.Asn1227Lys)
c.3648C>G (p.Asn1216Lys)
c.3657C>G (p.Asn1219Lys)
c.2667C>G (p.Asn889Lys)
1g.154584857G=CA2480931190ADARc.3524C= (n.3524C=)
c.3660C= (p.Asn1220=)
c.3513C= (p.Asn1171=)
c.3282C= (p.Asn1094=)
c.2745C= (p.Asn915=)
c.3630C= (p.Asn1210=)
n.2423C=
c.3552C= (p.Asn1184=)
n.3615C=
c.*1105C= (n.*1105C=)
n.4366C=
c.*796C= (n.*796C=)
c.*1862C= (n.*1862C=)
n.4491C=
c.2688C= (p.Asn896=)
c.3447C= (p.Asn1149=)
c.*3152C= (n.*3152C=)
n.3298C=
c.*3230C= (n.*3230C=)
n.389C=
c.3537C= (p.Asn1179=)
c.3495C= (p.Asn1165=)
c.3759C= (p.Asn1253=)
c.3681C= (p.Asn1227=)
c.3648C= (p.Asn1216=)
c.3657C= (p.Asn1219=)
c.2667C= (p.Asn889=)
1g.154584857G>TCA342634530ADARc.3524C>A (n.3524C>A)
c.3660C>A (p.Asn1220Lys)
c.3513C>A (p.Asn1171Lys)
c.3282C>A (p.Asn1094Lys)
c.2745C>A (p.Asn915Lys)
c.3630C>A (p.Asn1210Lys)
n.2423C>A
c.3552C>A (p.Asn1184Lys)
n.3615C>A
c.*1105C>A (n.*1105C>A)
n.4366C>A
c.*796C>A (n.*796C>A)
c.*1862C>A (n.*1862C>A)
n.4491C>A
c.2688C>A (p.Asn896Lys)
c.3447C>A (p.Asn1149Lys)
c.*3152C>A (n.*3152C>A)
n.3298C>A
c.*3230C>A (n.*3230C>A)
n.389C>A
c.3537C>A (p.Asn1179Lys)
c.3495C>A (p.Asn1165Lys)
c.3759C>A (p.Asn1253Lys)
c.3681C>A (p.Asn1227Lys)
c.3648C>A (p.Asn1216Lys)
c.3657C>A (p.Asn1219Lys)
c.2667C>A (p.Asn889Lys)
1g.154584858T>ACA342634531ADARc.3523A>T (n.3523A>T)
c.3659A>T (p.Asn1220Ile)
c.3512A>T (p.Asn1171Ile)
c.3281A>T (p.Asn1094Ile)
c.2744A>T (p.Asn915Ile)
c.3629A>T (p.Asn1210Ile)
n.2422A>T
c.3551A>T (p.Asn1184Ile)
n.3614A>T
c.*1104A>T (n.*1104A>T)
n.4365A>T
c.*795A>T (n.*795A>T)
c.*1861A>T (n.*1861A>T)
n.4490A>T
c.2687A>T (p.Asn896Ile)
c.3446A>T (p.Asn1149Ile)
c.*3151A>T (n.*3151A>T)
n.3297A>T
c.*3229A>T (n.*3229A>T)
n.388A>T
c.3536A>T (p.Asn1179Ile)
c.3494A>T (p.Asn1165Ile)
c.3758A>T (p.Asn1253Ile)
c.3680A>T (p.Asn1227Ile)
c.3647A>T (p.Asn1216Ile)
c.3656A>T (p.Asn1219Ile)
c.2666A>T (p.Asn889Ile)
1g.154584858T>CCA342634532ADARc.3523A>G (n.3523A>G)
c.3659A>G (p.Asn1220Ser)
c.3512A>G (p.Asn1171Ser)
c.3281A>G (p.Asn1094Ser)
c.2744A>G (p.Asn915Ser)
c.3629A>G (p.Asn1210Ser)
n.2422A>G
c.3551A>G (p.Asn1184Ser)
n.3614A>G
c.*1104A>G (n.*1104A>G)
n.4365A>G
c.*795A>G (n.*795A>G)
c.*1861A>G (n.*1861A>G)
n.4490A>G
c.2687A>G (p.Asn896Ser)
c.3446A>G (p.Asn1149Ser)
c.*3151A>G (n.*3151A>G)
n.3297A>G
c.*3229A>G (n.*3229A>G)
n.388A>G
c.3536A>G (p.Asn1179Ser)
c.3494A>G (p.Asn1165Ser)
c.3758A>G (p.Asn1253Ser)
c.3680A>G (p.Asn1227Ser)
c.3647A>G (p.Asn1216Ser)
c.3656A>G (p.Asn1219Ser)
c.2666A>G (p.Asn889Ser)
 ClinVar
1g.154584858T>GCA342634533ADARc.3523A>C (n.3523A>C)
c.3659A>C (p.Asn1220Thr)
c.3512A>C (p.Asn1171Thr)
c.3281A>C (p.Asn1094Thr)
c.2744A>C (p.Asn915Thr)
c.3629A>C (p.Asn1210Thr)
n.2422A>C
c.3551A>C (p.Asn1184Thr)
n.3614A>C
c.*1104A>C (n.*1104A>C)
n.4365A>C
c.*795A>C (n.*795A>C)
c.*1861A>C (n.*1861A>C)
n.4490A>C
c.2687A>C (p.Asn896Thr)
c.3446A>C (p.Asn1149Thr)
c.*3151A>C (n.*3151A>C)
n.3297A>C
c.*3229A>C (n.*3229A>C)
n.388A>C
c.3536A>C (p.Asn1179Thr)
c.3494A>C (p.Asn1165Thr)
c.3758A>C (p.Asn1253Thr)
c.3680A>C (p.Asn1227Thr)
c.3647A>C (p.Asn1216Thr)
c.3656A>C (p.Asn1219Thr)
c.2666A>C (p.Asn889Thr)
1g.154584859T>ACA342634534ADARc.3522A>T (n.3522A>T)
c.3658A>T (p.Asn1220Tyr)
c.3511A>T (p.Asn1171Tyr)
c.3280A>T (p.Asn1094Tyr)
c.2743A>T (p.Asn915Tyr)
c.3628A>T (p.Asn1210Tyr)
n.2421A>T
c.3550A>T (p.Asn1184Tyr)
n.3613A>T
c.*1103A>T (n.*1103A>T)
n.4364A>T
c.*794A>T (n.*794A>T)
c.*1860A>T (n.*1860A>T)
n.4489A>T
c.2686A>T (p.Asn896Tyr)
c.3445A>T (p.Asn1149Tyr)
c.*3150A>T (n.*3150A>T)
n.3296A>T
c.*3228A>T (n.*3228A>T)
n.387A>T
c.3535A>T (p.Asn1179Tyr)
c.3493A>T (p.Asn1165Tyr)
c.3757A>T (p.Asn1253Tyr)
c.3679A>T (p.Asn1227Tyr)
c.3646A>T (p.Asn1216Tyr)
c.3655A>T (p.Asn1219Tyr)
c.2665A>T (p.Asn889Tyr)
 gnomAD v4
1g.154584859T>CCA342634535ADARc.3522A>G (n.3522A>G)
c.3658A>G (p.Asn1220Asp)
c.3511A>G (p.Asn1171Asp)
c.3280A>G (p.Asn1094Asp)
c.2743A>G (p.Asn915Asp)
c.3628A>G (p.Asn1210Asp)
n.2421A>G
c.3550A>G (p.Asn1184Asp)
n.3613A>G
c.*1103A>G (n.*1103A>G)
n.4364A>G
c.*794A>G (n.*794A>G)
c.*1860A>G (n.*1860A>G)
n.4489A>G
c.2686A>G (p.Asn896Asp)
c.3445A>G (p.Asn1149Asp)
c.*3150A>G (n.*3150A>G)
n.3296A>G
c.*3228A>G (n.*3228A>G)
n.387A>G
c.3535A>G (p.Asn1179Asp)
c.3493A>G (p.Asn1165Asp)
c.3757A>G (p.Asn1253Asp)
c.3679A>G (p.Asn1227Asp)
c.3646A>G (p.Asn1216Asp)
c.3655A>G (p.Asn1219Asp)
c.2665A>G (p.Asn889Asp)
1g.154584859T>GCA342634536ADARc.3522A>C (n.3522A>C)
c.3658A>C (p.Asn1220His)
c.3511A>C (p.Asn1171His)
c.3280A>C (p.Asn1094His)
c.2743A>C (p.Asn915His)
c.3628A>C (p.Asn1210His)
n.2421A>C
c.3550A>C (p.Asn1184His)
n.3613A>C
c.*1103A>C (n.*1103A>C)
n.4364A>C
c.*794A>C (n.*794A>C)
c.*1860A>C (n.*1860A>C)
n.4489A>C
c.2686A>C (p.Asn896His)
c.3445A>C (p.Asn1149His)
c.*3150A>C (n.*3150A>C)
n.3296A>C
c.*3228A>C (n.*3228A>C)
n.387A>C
c.3535A>C (p.Asn1179His)
c.3493A>C (p.Asn1165His)
c.3757A>C (p.Asn1253His)
c.3679A>C (p.Asn1227His)
c.3646A>C (p.Asn1216His)
c.3655A>C (p.Asn1219His)
c.2665A>C (p.Asn889His)
1g.154584860C>ACA421231372ADARc.3521G>T (n.3521G>T)
c.3657G>T (p.Gly1219=)
c.3510G>T (p.Gly1170=)
c.3279G>T (p.Gly1093=)
c.2742G>T (p.Gly914=)
c.3627G>T (p.Gly1209=)
n.2420G>T
c.3549G>T (p.Gly1183=)
n.3612G>T
c.*1102G>T (n.*1102G>T)
n.4363G>T
c.*793G>T (n.*793G>T)
c.*1859G>T (n.*1859G>T)
n.4488G>T
c.2685G>T (p.Gly895=)
c.3444G>T (p.Gly1148=)
c.*3149G>T (n.*3149G>T)
n.3295G>T
c.*3227G>T (n.*3227G>T)
n.386G>T
c.3534G>T (p.Gly1178=)
c.3492G>T (p.Gly1164=)
c.3756G>T (p.Gly1252=)
c.3678G>T (p.Gly1226=)
c.3645G>T (p.Gly1215=)
c.3654G>T (p.Gly1218=)
c.2664G>T (p.Gly888=)
 COSMIC
1g.154584860C>GCA421231373ADARc.3521G>C (n.3521G>C)
c.3657G>C (p.Gly1219=)
c.3510G>C (p.Gly1170=)
c.3279G>C (p.Gly1093=)
c.2742G>C (p.Gly914=)
c.3627G>C (p.Gly1209=)
n.2420G>C
c.3549G>C (p.Gly1183=)
n.3612G>C
c.*1102G>C (n.*1102G>C)
n.4363G>C
c.*793G>C (n.*793G>C)
c.*1859G>C (n.*1859G>C)
n.4488G>C
c.2685G>C (p.Gly895=)
c.3444G>C (p.Gly1148=)
c.*3149G>C (n.*3149G>C)
n.3295G>C
c.*3227G>C (n.*3227G>C)
n.386G>C
c.3534G>C (p.Gly1178=)
c.3492G>C (p.Gly1164=)
c.3756G>C (p.Gly1252=)
c.3678G>C (p.Gly1226=)
c.3645G>C (p.Gly1215=)
c.3654G>C (p.Gly1218=)
c.2664G>C (p.Gly888=)
 ClinVar gnomAD v4
1g.154584860C>TCA421231374ADARc.3521G>A (n.3521G>A)
c.3657G>A (p.Gly1219=)
c.3510G>A (p.Gly1170=)
c.3279G>A (p.Gly1093=)
c.2742G>A (p.Gly914=)
c.3627G>A (p.Gly1209=)
n.2420G>A
c.3549G>A (p.Gly1183=)
n.3612G>A
c.*1102G>A (n.*1102G>A)
n.4363G>A
c.*793G>A (n.*793G>A)
c.*1859G>A (n.*1859G>A)
n.4488G>A
c.2685G>A (p.Gly895=)
c.3444G>A (p.Gly1148=)
c.*3149G>A (n.*3149G>A)
n.3295G>A
c.*3227G>A (n.*3227G>A)
n.386G>A
c.3534G>A (p.Gly1178=)
c.3492G>A (p.Gly1164=)
c.3756G>A (p.Gly1252=)
c.3678G>A (p.Gly1226=)
c.3645G>A (p.Gly1215=)
c.3654G>A (p.Gly1218=)
c.2664G>A (p.Gly888=)
 gnomAD v4
1g.154584861C>ACA342634537ADARc.3520G>T (n.3520G>T)
c.3656G>T (p.Gly1219Val)
c.3509G>T (p.Gly1170Val)
c.3278G>T (p.Gly1093Val)
c.2741G>T (p.Gly914Val)
c.3626G>T (p.Gly1209Val)
n.2419G>T
c.3548G>T (p.Gly1183Val)
n.3611G>T
c.*1101G>T (n.*1101G>T)
n.4362G>T
c.*792G>T (n.*792G>T)
c.*1858G>T (n.*1858G>T)
n.4487G>T
c.2684G>T (p.Gly895Val)
c.3443G>T (p.Gly1148Val)
c.*3148G>T (n.*3148G>T)
n.3294G>T
c.*3226G>T (n.*3226G>T)
n.385G>T
c.3533G>T (p.Gly1178Val)
c.3491G>T (p.Gly1164Val)
c.3755G>T (p.Gly1252Val)
c.3677G>T (p.Gly1226Val)
c.3644G>T (p.Gly1215Val)
c.3653G>T (p.Gly1218Val)
c.2663G>T (p.Gly888Val)
1g.154584861C>GCA342634538ADARc.3520G>C (n.3520G>C)
c.3656G>C (p.Gly1219Ala)
c.3509G>C (p.Gly1170Ala)
c.3278G>C (p.Gly1093Ala)
c.2741G>C (p.Gly914Ala)
c.3626G>C (p.Gly1209Ala)
n.2419G>C
c.3548G>C (p.Gly1183Ala)
n.3611G>C
c.*1101G>C (n.*1101G>C)
n.4362G>C
c.*792G>C (n.*792G>C)
c.*1858G>C (n.*1858G>C)
n.4487G>C
c.2684G>C (p.Gly895Ala)
c.3443G>C (p.Gly1148Ala)
c.*3148G>C (n.*3148G>C)
n.3294G>C
c.*3226G>C (n.*3226G>C)
n.385G>C
c.3533G>C (p.Gly1178Ala)
c.3491G>C (p.Gly1164Ala)
c.3755G>C (p.Gly1252Ala)
c.3677G>C (p.Gly1226Ala)
c.3644G>C (p.Gly1215Ala)
c.3653G>C (p.Gly1218Ala)
c.2663G>C (p.Gly888Ala)
1g.154584861C>TCA342634539ADARc.3520G>A (n.3520G>A)
c.3656G>A (p.Gly1219Glu)
c.3509G>A (p.Gly1170Glu)
c.3278G>A (p.Gly1093Glu)
c.2741G>A (p.Gly914Glu)
c.3626G>A (p.Gly1209Glu)
n.2419G>A
c.3548G>A (p.Gly1183Glu)
n.3611G>A
c.*1101G>A (n.*1101G>A)
n.4362G>A
c.*792G>A (n.*792G>A)
c.*1858G>A (n.*1858G>A)
n.4487G>A
c.2684G>A (p.Gly895Glu)
c.3443G>A (p.Gly1148Glu)
c.*3148G>A (n.*3148G>A)
n.3294G>A
c.*3226G>A (n.*3226G>A)
n.385G>A
c.3533G>A (p.Gly1178Glu)
c.3491G>A (p.Gly1164Glu)
c.3755G>A (p.Gly1252Glu)
c.3677G>A (p.Gly1226Glu)
c.3644G>A (p.Gly1215Glu)
c.3653G>A (p.Gly1218Glu)
c.2663G>A (p.Gly888Glu)
1g.154584862C>ACA342634540ADARc.3519G>T (n.3519G>T)
c.3655G>T (p.Gly1219Trp)
c.3508G>T (p.Gly1170Trp)
c.3277G>T (p.Gly1093Trp)
c.2740G>T (p.Gly914Trp)
c.3625G>T (p.Gly1209Trp)
n.2418G>T
c.3547G>T (p.Gly1183Trp)
n.3610G>T
c.*1100G>T (n.*1100G>T)
n.4361G>T
c.*791G>T (n.*791G>T)
c.*1857G>T (n.*1857G>T)
n.4486G>T
c.2683G>T (p.Gly895Trp)
c.3442G>T (p.Gly1148Trp)
c.*3147G>T (n.*3147G>T)
n.3293G>T
c.*3225G>T (n.*3225G>T)
n.384G>T
c.3532G>T (p.Gly1178Trp)
c.3490G>T (p.Gly1164Trp)
c.3754G>T (p.Gly1252Trp)
c.3676G>T (p.Gly1226Trp)
c.3643G>T (p.Gly1215Trp)
c.3652G>T (p.Gly1218Trp)
c.2662G>T (p.Gly888Trp)
 COSMIC COSMIC
1g.154584862C>GCA342634541ADARc.3519G>C (n.3519G>C)
c.3655G>C (p.Gly1219Arg)
c.3508G>C (p.Gly1170Arg)
c.3277G>C (p.Gly1093Arg)
c.2740G>C (p.Gly914Arg)
c.3625G>C (p.Gly1209Arg)
n.2418G>C
c.3547G>C (p.Gly1183Arg)
n.3610G>C
c.*1100G>C (n.*1100G>C)
n.4361G>C
c.*791G>C (n.*791G>C)
c.*1857G>C (n.*1857G>C)
n.4486G>C
c.2683G>C (p.Gly895Arg)
c.3442G>C (p.Gly1148Arg)
c.*3147G>C (n.*3147G>C)
n.3293G>C
c.*3225G>C (n.*3225G>C)
n.384G>C
c.3532G>C (p.Gly1178Arg)
c.3490G>C (p.Gly1164Arg)
c.3754G>C (p.Gly1252Arg)
c.3676G>C (p.Gly1226Arg)
c.3643G>C (p.Gly1215Arg)
c.3652G>C (p.Gly1218Arg)
c.2662G>C (p.Gly888Arg)
1g.154584862C>TCA342634542ADARc.3519G>A (n.3519G>A)
c.3655G>A (p.Gly1219Arg)
c.3508G>A (p.Gly1170Arg)
c.3277G>A (p.Gly1093Arg)
c.2740G>A (p.Gly914Arg)
c.3625G>A (p.Gly1209Arg)
n.2418G>A
c.3547G>A (p.Gly1183Arg)
n.3610G>A
c.*1100G>A (n.*1100G>A)
n.4361G>A
c.*791G>A (n.*791G>A)
c.*1857G>A (n.*1857G>A)
n.4486G>A
c.2683G>A (p.Gly895Arg)
c.3442G>A (p.Gly1148Arg)
c.*3147G>A (n.*3147G>A)
n.3293G>A
c.*3225G>A (n.*3225G>A)
n.384G>A
c.3532G>A (p.Gly1178Arg)
c.3490G>A (p.Gly1164Arg)
c.3754G>A (p.Gly1252Arg)
c.3676G>A (p.Gly1226Arg)
c.3643G>A (p.Gly1215Arg)
c.3652G>A (p.Gly1218Arg)
c.2662G>A (p.Gly888Arg)
1g.154584862_154584863delinsCACA2480931191ADARc.3518_3519delinsTG (n.3518_3519delinsTG)
c.3654_3655delinsTG (p.Tyr1218=)
c.3507_3508delinsTG (p.Tyr1169=)
c.3276_3277delinsTG (p.Tyr1092=)
c.2739_2740delinsTG (p.Tyr913=)
c.3624_3625delinsTG (p.Tyr1208=)
n.2417_2418delinsTG
c.3546_3547delinsTG (p.Tyr1182=)
n.3609_3610delinsTG
c.*1099_*1100delinsTG (n.*1099_*1100delinsTG)
n.4360_4361delinsTG
c.*790_*791delinsTG (n.*790_*791delinsTG)
c.*1856_*1857delinsTG (n.*1856_*1857delinsTG)
n.4485_4486delinsTG
c.2682_2683delinsTG (p.Tyr894=)
c.3441_3442delinsTG (p.Tyr1147=)
c.*3146_*3147delinsTG (n.*3146_*3147delinsTG)
n.3292_3293delinsTG
c.*3224_*3225delinsTG (n.*3224_*3225delinsTG)
n.383_384delinsTG
c.3531_3532delinsTG (p.Tyr1177=)
c.3489_3490delinsTG (p.Tyr1163=)
c.3753_3754delinsTG (p.Tyr1251=)
c.3675_3676delinsTG (p.Tyr1225=)
c.3642_3643delinsTG (p.Tyr1214=)
c.3651_3652delinsTG (p.Tyr1217=)
c.2661_2662delinsTG (p.Tyr887=)
1g.154584863delCA526666211ADARc.3518del (n.3518del)
c.3654del (p.Tyr1218Ter)
c.3507del (p.Tyr1169Ter)
c.3276del (p.Tyr1092Ter)
c.2739del (p.Tyr913Ter)
c.3624del (p.Tyr1208Ter)
n.2417del
c.3546del (p.Tyr1182Ter)
n.3609del
c.*1099del (n.*1099del)
n.4360del
c.*790del (n.*790del)
c.*1856del (n.*1856del)
n.4485del
c.2682del (p.Tyr894Ter)
c.3441del (p.Tyr1147Ter)
c.*3146del (n.*3146del)
n.3292del
c.*3224del (n.*3224del)
n.383del
c.3531del (p.Tyr1177Ter)
c.3489del (p.Tyr1163Ter)
c.3753del (p.Tyr1251Ter)
c.3675del (p.Tyr1225Ter)
c.3642del (p.Tyr1214Ter)
c.3651del (p.Tyr1217Ter)
c.2661del (p.Tyr887Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.154584863A>CCA342634543ADARc.3518T>G (n.3518T>G)
c.3654T>G (p.Tyr1218Ter)
c.3507T>G (p.Tyr1169Ter)
c.3276T>G (p.Tyr1092Ter)
c.2739T>G (p.Tyr913Ter)
c.3624T>G (p.Tyr1208Ter)
n.2417T>G
c.3546T>G (p.Tyr1182Ter)
n.3609T>G
c.*1099T>G (n.*1099T>G)
n.4360T>G
c.*790T>G (n.*790T>G)
c.*1856T>G (n.*1856T>G)
n.4485T>G
c.2682T>G (p.Tyr894Ter)
c.3441T>G (p.Tyr1147Ter)
c.*3146T>G (n.*3146T>G)
n.3292T>G
c.*3224T>G (n.*3224T>G)
n.383T>G
c.3531T>G (p.Tyr1177Ter)
c.3489T>G (p.Tyr1163Ter)
c.3753T>G (p.Tyr1251Ter)
c.3675T>G (p.Tyr1225Ter)
c.3642T>G (p.Tyr1214Ter)
c.3651T>G (p.Tyr1217Ter)
c.2661T>G (p.Tyr887Ter)
1g.154584863A>GCA421231378ADARc.3518T>C (n.3518T>C)
c.3654T>C (p.Tyr1218=)
c.3507T>C (p.Tyr1169=)
c.3276T>C (p.Tyr1092=)
c.2739T>C (p.Tyr913=)
c.3624T>C (p.Tyr1208=)
n.2417T>C
c.3546T>C (p.Tyr1182=)
n.3609T>C
c.*1099T>C (n.*1099T>C)
n.4360T>C
c.*790T>C (n.*790T>C)
c.*1856T>C (n.*1856T>C)
n.4485T>C
c.2682T>C (p.Tyr894=)
c.3441T>C (p.Tyr1147=)
c.*3146T>C (n.*3146T>C)
n.3292T>C
c.*3224T>C (n.*3224T>C)
n.383T>C
c.3531T>C (p.Tyr1177=)
c.3489T>C (p.Tyr1163=)
c.3753T>C (p.Tyr1251=)
c.3675T>C (p.Tyr1225=)
c.3642T>C (p.Tyr1214=)
c.3651T>C (p.Tyr1217=)
c.2661T>C (p.Tyr887=)
 gnomAD v4
1g.154584863A>TCA342634544ADARc.3518T>A (n.3518T>A)
c.3654T>A (p.Tyr1218Ter)
c.3507T>A (p.Tyr1169Ter)
c.3276T>A (p.Tyr1092Ter)
c.2739T>A (p.Tyr913Ter)
c.3624T>A (p.Tyr1208Ter)
n.2417T>A
c.3546T>A (p.Tyr1182Ter)
n.3609T>A
c.*1099T>A (n.*1099T>A)
n.4360T>A
c.*790T>A (n.*790T>A)
c.*1856T>A (n.*1856T>A)
n.4485T>A
c.2682T>A (p.Tyr894Ter)
c.3441T>A (p.Tyr1147Ter)
c.*3146T>A (n.*3146T>A)
n.3292T>A
c.*3224T>A (n.*3224T>A)
n.383T>A
c.3531T>A (p.Tyr1177Ter)
c.3489T>A (p.Tyr1163Ter)
c.3753T>A (p.Tyr1251Ter)
c.3675T>A (p.Tyr1225Ter)
c.3642T>A (p.Tyr1214Ter)
c.3651T>A (p.Tyr1217Ter)
c.2661T>A (p.Tyr887Ter)
1g.154584864T>ACA342634545ADARc.3517A>T (n.3517A>T)
c.3653A>T (p.Tyr1218Phe)
c.3506A>T (p.Tyr1169Phe)
c.3275A>T (p.Tyr1092Phe)
c.2738A>T (p.Tyr913Phe)
c.3623A>T (p.Tyr1208Phe)
n.2416A>T
c.3545A>T (p.Tyr1182Phe)
n.3608A>T
c.*1098A>T (n.*1098A>T)
n.4359A>T
c.*789A>T (n.*789A>T)
c.*1855A>T (n.*1855A>T)
n.4484A>T
c.2681A>T (p.Tyr894Phe)
c.3440A>T (p.Tyr1147Phe)
c.*3145A>T (n.*3145A>T)
n.3291A>T
c.*3223A>T (n.*3223A>T)
n.382A>T
c.3530A>T (p.Tyr1177Phe)
c.3488A>T (p.Tyr1163Phe)
c.3752A>T (p.Tyr1251Phe)
c.3674A>T (p.Tyr1225Phe)
c.3641A>T (p.Tyr1214Phe)
c.3650A>T (p.Tyr1217Phe)
c.2660A>T (p.Tyr887Phe)
1g.154584864T>CCA342634546ADARc.3517A>G (n.3517A>G)
c.3653A>G (p.Tyr1218Cys)
c.3506A>G (p.Tyr1169Cys)
c.3275A>G (p.Tyr1092Cys)
c.2738A>G (p.Tyr913Cys)
c.3623A>G (p.Tyr1208Cys)
n.2416A>G
c.3545A>G (p.Tyr1182Cys)
n.3608A>G
c.*1098A>G (n.*1098A>G)
n.4359A>G
c.*789A>G (n.*789A>G)
c.*1855A>G (n.*1855A>G)
n.4484A>G
c.2681A>G (p.Tyr894Cys)
c.3440A>G (p.Tyr1147Cys)
c.*3145A>G (n.*3145A>G)
n.3291A>G
c.*3223A>G (n.*3223A>G)
n.382A>G
c.3530A>G (p.Tyr1177Cys)
c.3488A>G (p.Tyr1163Cys)
c.3752A>G (p.Tyr1251Cys)
c.3674A>G (p.Tyr1225Cys)
c.3641A>G (p.Tyr1214Cys)
c.3650A>G (p.Tyr1217Cys)
c.2660A>G (p.Tyr887Cys)
 ClinVar dbSNP gnomAD v4
1g.154584864T>GCA342634547ADARc.3517A>C (n.3517A>C)
c.3653A>C (p.Tyr1218Ser)
c.3506A>C (p.Tyr1169Ser)
c.3275A>C (p.Tyr1092Ser)
c.2738A>C (p.Tyr913Ser)
c.3623A>C (p.Tyr1208Ser)
n.2416A>C
c.3545A>C (p.Tyr1182Ser)
n.3608A>C
c.*1098A>C (n.*1098A>C)
n.4359A>C
c.*789A>C (n.*789A>C)
c.*1855A>C (n.*1855A>C)
n.4484A>C
c.2681A>C (p.Tyr894Ser)
c.3440A>C (p.Tyr1147Ser)
c.*3145A>C (n.*3145A>C)
n.3291A>C
c.*3223A>C (n.*3223A>C)
n.382A>C
c.3530A>C (p.Tyr1177Ser)
c.3488A>C (p.Tyr1163Ser)
c.3752A>C (p.Tyr1251Ser)
c.3674A>C (p.Tyr1225Ser)
c.3641A>C (p.Tyr1214Ser)
c.3650A>C (p.Tyr1217Ser)
c.2660A>C (p.Tyr887Ser)
1g.154584865A>CCA342634548ADARc.3516T>G (n.3516T>G)
c.3652T>G (p.Tyr1218Asp)
c.3505T>G (p.Tyr1169Asp)
c.3274T>G (p.Tyr1092Asp)
c.2737T>G (p.Tyr913Asp)
c.3622T>G (p.Tyr1208Asp)
n.2415T>G
c.3544T>G (p.Tyr1182Asp)
n.3607T>G
c.*1097T>G (n.*1097T>G)
n.4358T>G
c.*788T>G (n.*788T>G)
c.*1854T>G (n.*1854T>G)
n.4483T>G
c.2680T>G (p.Tyr894Asp)
c.3439T>G (p.Tyr1147Asp)
c.*3144T>G (n.*3144T>G)
n.3290T>G
c.*3222T>G (n.*3222T>G)
n.381T>G
c.3529T>G (p.Tyr1177Asp)
c.3487T>G (p.Tyr1163Asp)
c.3751T>G (p.Tyr1251Asp)
c.3673T>G (p.Tyr1225Asp)
c.3640T>G (p.Tyr1214Asp)
c.3649T>G (p.Tyr1217Asp)
c.2659T>G (p.Tyr887Asp)
1g.154584865A>GCA342634549ADARc.3516T>C (n.3516T>C)
c.3652T>C (p.Tyr1218His)
c.3505T>C (p.Tyr1169His)
c.3274T>C (p.Tyr1092His)
c.2737T>C (p.Tyr913His)
c.3622T>C (p.Tyr1208His)
n.2415T>C
c.3544T>C (p.Tyr1182His)
n.3607T>C
c.*1097T>C (n.*1097T>C)
n.4358T>C
c.*788T>C (n.*788T>C)
c.*1854T>C (n.*1854T>C)
n.4483T>C
c.2680T>C (p.Tyr894His)
c.3439T>C (p.Tyr1147His)
c.*3144T>C (n.*3144T>C)
n.3290T>C
c.*3222T>C (n.*3222T>C)
n.381T>C
c.3529T>C (p.Tyr1177His)
c.3487T>C (p.Tyr1163His)
c.3751T>C (p.Tyr1251His)
c.3673T>C (p.Tyr1225His)
c.3640T>C (p.Tyr1214His)
c.3649T>C (p.Tyr1217His)
c.2659T>C (p.Tyr887His)
1g.154584865A>TCA342634550ADARc.3516T>A (n.3516T>A)
c.3652T>A (p.Tyr1218Asn)
c.3505T>A (p.Tyr1169Asn)
c.3274T>A (p.Tyr1092Asn)
c.2737T>A (p.Tyr913Asn)
c.3622T>A (p.Tyr1208Asn)
n.2415T>A
c.3544T>A (p.Tyr1182Asn)
n.3607T>A
c.*1097T>A (n.*1097T>A)
n.4358T>A
c.*788T>A (n.*788T>A)
c.*1854T>A (n.*1854T>A)
n.4483T>A
c.2680T>A (p.Tyr894Asn)
c.3439T>A (p.Tyr1147Asn)
c.*3144T>A (n.*3144T>A)
n.3290T>A
c.*3222T>A (n.*3222T>A)
n.381T>A
c.3529T>A (p.Tyr1177Asn)
c.3487T>A (p.Tyr1163Asn)
c.3751T>A (p.Tyr1251Asn)
c.3673T>A (p.Tyr1225Asn)
c.3640T>A (p.Tyr1214Asn)
c.3649T>A (p.Tyr1217Asn)
c.2659T>A (p.Tyr887Asn)
1g.154584866G>ACA421231383ADARc.3515C>T (n.3515C>T)
c.3651C>T (p.Gly1217=)
c.3504C>T (p.Gly1168=)
c.3273C>T (p.Gly1091=)
c.2736C>T (p.Gly912=)
c.3621C>T (p.Gly1207=)
n.2414C>T
c.3543C>T (p.Gly1181=)
n.3606C>T
c.*1096C>T (n.*1096C>T)
n.4357C>T
c.*787C>T (n.*787C>T)
c.*1853C>T (n.*1853C>T)
n.4482C>T
c.2679C>T (p.Gly893=)
c.3438C>T (p.Gly1146=)
c.*3143C>T (n.*3143C>T)
n.3289C>T
c.*3221C>T (n.*3221C>T)
n.380C>T
c.3528C>T (p.Gly1176=)
c.3486C>T (p.Gly1162=)
c.3750C>T (p.Gly1250=)
c.3672C>T (p.Gly1224=)
c.3639C>T (p.Gly1213=)
c.3648C>T (p.Gly1216=)
c.2658C>T (p.Gly886=)
1g.154584866G>CCA421231385ADARc.3515C>G (n.3515C>G)
c.3651C>G (p.Gly1217=)
c.3504C>G (p.Gly1168=)
c.3273C>G (p.Gly1091=)
c.2736C>G (p.Gly912=)
c.3621C>G (p.Gly1207=)
n.2414C>G
c.3543C>G (p.Gly1181=)
n.3606C>G
c.*1096C>G (n.*1096C>G)
n.4357C>G
c.*787C>G (n.*787C>G)
c.*1853C>G (n.*1853C>G)
n.4482C>G
c.2679C>G (p.Gly893=)
c.3438C>G (p.Gly1146=)
c.*3143C>G (n.*3143C>G)
n.3289C>G
c.*3221C>G (n.*3221C>G)
n.380C>G
c.3528C>G (p.Gly1176=)
c.3486C>G (p.Gly1162=)
c.3750C>G (p.Gly1250=)
c.3672C>G (p.Gly1224=)
c.3639C>G (p.Gly1213=)
c.3648C>G (p.Gly1216=)
c.2658C>G (p.Gly886=)
1g.154584866G>TCA421231387ADARc.3515C>A (n.3515C>A)
c.3651C>A (p.Gly1217=)
c.3504C>A (p.Gly1168=)
c.3273C>A (p.Gly1091=)
c.2736C>A (p.Gly912=)
c.3621C>A (p.Gly1207=)
n.2414C>A
c.3543C>A (p.Gly1181=)
n.3606C>A
c.*1096C>A (n.*1096C>A)
n.4357C>A
c.*787C>A (n.*787C>A)
c.*1853C>A (n.*1853C>A)
n.4482C>A
c.2679C>A (p.Gly893=)
c.3438C>A (p.Gly1146=)
c.*3143C>A (n.*3143C>A)
n.3289C>A
c.*3221C>A (n.*3221C>A)
n.380C>A
c.3528C>A (p.Gly1176=)
c.3486C>A (p.Gly1162=)
c.3750C>A (p.Gly1250=)
c.3672C>A (p.Gly1224=)
c.3639C>A (p.Gly1213=)
c.3648C>A (p.Gly1216=)
c.2658C>A (p.Gly886=)
1g.154584867C>ACA342634551ADARc.3514G>T (n.3514G>T)
c.3650G>T (p.Gly1217Val)
c.3503G>T (p.Gly1168Val)
c.3272G>T (p.Gly1091Val)
c.2735G>T (p.Gly912Val)
c.3620G>T (p.Gly1207Val)
n.2413G>T
c.3542G>T (p.Gly1181Val)
n.3605G>T
c.*1095G>T (n.*1095G>T)
n.4356G>T
c.*786G>T (n.*786G>T)
c.*1852G>T (n.*1852G>T)
n.4481G>T
c.2678G>T (p.Gly893Val)
c.3437G>T (p.Gly1146Val)
c.*3142G>T (n.*3142G>T)
n.3288G>T
c.*3220G>T (n.*3220G>T)
n.379G>T
c.3527G>T (p.Gly1176Val)
c.3485G>T (p.Gly1162Val)
c.3749G>T (p.Gly1250Val)
c.3671G>T (p.Gly1224Val)
c.3638G>T (p.Gly1213Val)
c.3647G>T (p.Gly1216Val)
c.2657G>T (p.Gly886Val)
1g.154584867C>GCA342634552ADARc.3514G>C (n.3514G>C)
c.3650G>C (p.Gly1217Ala)
c.3503G>C (p.Gly1168Ala)
c.3272G>C (p.Gly1091Ala)
c.2735G>C (p.Gly912Ala)
c.3620G>C (p.Gly1207Ala)
n.2413G>C
c.3542G>C (p.Gly1181Ala)
n.3605G>C
c.*1095G>C (n.*1095G>C)
n.4356G>C
c.*786G>C (n.*786G>C)
c.*1852G>C (n.*1852G>C)
n.4481G>C
c.2678G>C (p.Gly893Ala)
c.3437G>C (p.Gly1146Ala)
c.*3142G>C (n.*3142G>C)
n.3288G>C
c.*3220G>C (n.*3220G>C)
n.379G>C
c.3527G>C (p.Gly1176Ala)
c.3485G>C (p.Gly1162Ala)
c.3749G>C (p.Gly1250Ala)
c.3671G>C (p.Gly1224Ala)
c.3638G>C (p.Gly1213Ala)
c.3647G>C (p.Gly1216Ala)
c.2657G>C (p.Gly886Ala)
1g.154584867C>TCA342634553ADARc.3514G>A (n.3514G>A)
c.3650G>A (p.Gly1217Asp)
c.3503G>A (p.Gly1168Asp)
c.3272G>A (p.Gly1091Asp)
c.2735G>A (p.Gly912Asp)
c.3620G>A (p.Gly1207Asp)
n.2413G>A
c.3542G>A (p.Gly1181Asp)
n.3605G>A
c.*1095G>A (n.*1095G>A)
n.4356G>A
c.*786G>A (n.*786G>A)
c.*1852G>A (n.*1852G>A)
n.4481G>A
c.2678G>A (p.Gly893Asp)
c.3437G>A (p.Gly1146Asp)
c.*3142G>A (n.*3142G>A)
n.3288G>A
c.*3220G>A (n.*3220G>A)
n.379G>A
c.3527G>A (p.Gly1176Asp)
c.3485G>A (p.Gly1162Asp)
c.3749G>A (p.Gly1250Asp)
c.3671G>A (p.Gly1224Asp)
c.3638G>A (p.Gly1213Asp)
c.3647G>A (p.Gly1216Asp)
c.2657G>A (p.Gly886Asp)
1g.154584869dupCA2586967333ADARc.3514dup (n.3514dup)
c.3650dup (p.Tyr1218LeufsTer6)
c.3503dup (p.Tyr1169LeufsTer6)
c.3272dup (p.Tyr1092LeufsTer6)
c.2735dup (p.Tyr913LeufsTer6)
c.3620dup (p.Tyr1208LeufsTer6)
n.2413dup
c.3542dup (p.Tyr1182LeufsTer6)
n.3605dup
c.*1095dup (n.*1095dup)
n.4356dup
c.*786dup (n.*786dup)
c.*1852dup (n.*1852dup)
n.4481dup
c.2678dup (p.Tyr894LeufsTer6)
c.3437dup (p.Tyr1147LeufsTer6)
c.*3142dup (n.*3142dup)
n.3288dup
c.*3220dup (n.*3220dup)
n.379dup
c.3527dup (p.Tyr1177LeufsTer6)
c.3485dup (p.Tyr1163LeufsTer6)
c.3749dup (p.Tyr1251LeufsTer6)
c.3671dup (p.Tyr1225LeufsTer6)
c.3638dup (p.Tyr1214LeufsTer6)
c.3647dup (p.Tyr1217LeufsTer6)
c.2657dup (p.Tyr887LeufsTer6)
1g.154584868C>ACA342634554ADARc.3513G>T (n.3513G>T)
c.3649G>T (p.Gly1217Cys)
c.3502G>T (p.Gly1168Cys)
c.3271G>T (p.Gly1091Cys)
c.2734G>T (p.Gly912Cys)
c.3619G>T (p.Gly1207Cys)
n.2412G>T
c.3541G>T (p.Gly1181Cys)
n.3604G>T
c.*1094G>T (n.*1094G>T)
n.4355G>T
c.*785G>T (n.*785G>T)
c.*1851G>T (n.*1851G>T)
n.4480G>T
c.2677G>T (p.Gly893Cys)
c.3436G>T (p.Gly1146Cys)
c.*3141G>T (n.*3141G>T)
n.3287G>T
c.*3219G>T (n.*3219G>T)
n.378G>T
c.3526G>T (p.Gly1176Cys)
c.3484G>T (p.Gly1162Cys)
c.3748G>T (p.Gly1250Cys)
c.3670G>T (p.Gly1224Cys)
c.3637G>T (p.Gly1213Cys)
c.3646G>T (p.Gly1216Cys)
c.2656G>T (p.Gly886Cys)
1g.154584868C>GCA342634555ADARc.3513G>C (n.3513G>C)
c.3649G>C (p.Gly1217Arg)
c.3502G>C (p.Gly1168Arg)
c.3271G>C (p.Gly1091Arg)
c.2734G>C (p.Gly912Arg)
c.3619G>C (p.Gly1207Arg)
n.2412G>C
c.3541G>C (p.Gly1181Arg)
n.3604G>C
c.*1094G>C (n.*1094G>C)
n.4355G>C
c.*785G>C (n.*785G>C)
c.*1851G>C (n.*1851G>C)
n.4480G>C
c.2677G>C (p.Gly893Arg)
c.3436G>C (p.Gly1146Arg)
c.*3141G>C (n.*3141G>C)
n.3287G>C
c.*3219G>C (n.*3219G>C)
n.378G>C
c.3526G>C (p.Gly1176Arg)
c.3484G>C (p.Gly1162Arg)
c.3748G>C (p.Gly1250Arg)
c.3670G>C (p.Gly1224Arg)
c.3637G>C (p.Gly1213Arg)
c.3646G>C (p.Gly1216Arg)
c.2656G>C (p.Gly886Arg)
1g.154584868C>TCA342634556ADARc.3513G>A (n.3513G>A)
c.3649G>A (p.Gly1217Ser)
c.3502G>A (p.Gly1168Ser)
c.3271G>A (p.Gly1091Ser)
c.2734G>A (p.Gly912Ser)
c.3619G>A (p.Gly1207Ser)
n.2412G>A
c.3541G>A (p.Gly1181Ser)
n.3604G>A
c.*1094G>A (n.*1094G>A)
n.4355G>A
c.*785G>A (n.*785G>A)
c.*1851G>A (n.*1851G>A)
n.4480G>A
c.2677G>A (p.Gly893Ser)
c.3436G>A (p.Gly1146Ser)
c.*3141G>A (n.*3141G>A)
n.3287G>A
c.*3219G>A (n.*3219G>A)
n.378G>A
c.3526G>A (p.Gly1176Ser)
c.3484G>A (p.Gly1162Ser)
c.3748G>A (p.Gly1250Ser)
c.3670G>A (p.Gly1224Ser)
c.3637G>A (p.Gly1213Ser)
c.3646G>A (p.Gly1216Ser)
c.2656G>A (p.Gly886Ser)
1g.154584869C>ACA342634558ADARc.3512G>T (n.3512G>T)
c.3648G>T (p.Met1216Ile)
c.3501G>T (p.Met1167Ile)
c.3270G>T (p.Met1090Ile)
c.2733G>T (p.Met911Ile)
c.3618G>T (p.Met1206Ile)
n.2411G>T
c.3540G>T (p.Met1180Ile)
n.3603G>T
c.*1093G>T (n.*1093G>T)
n.4354G>T
c.*784G>T (n.*784G>T)
c.*1850G>T (n.*1850G>T)
n.4479G>T
c.2676G>T (p.Met892Ile)
c.3435G>T (p.Met1145Ile)
c.*3140G>T (n.*3140G>T)
n.3286G>T
c.*3218G>T (n.*3218G>T)
n.377G>T
c.3525G>T (p.Met1175Ile)
c.3483G>T (p.Met1161Ile)
c.3747G>T (p.Met1249Ile)
c.3669G>T (p.Met1223Ile)
c.3636G>T (p.Met1212Ile)
c.3645G>T (p.Met1215Ile)
c.2655G>T (p.Met885Ile)
1g.154584869C>GCA342634559ADARc.3512G>C (n.3512G>C)
c.3648G>C (p.Met1216Ile)
c.3501G>C (p.Met1167Ile)
c.3270G>C (p.Met1090Ile)
c.2733G>C (p.Met911Ile)
c.3618G>C (p.Met1206Ile)
n.2411G>C
c.3540G>C (p.Met1180Ile)
n.3603G>C
c.*1093G>C (n.*1093G>C)
n.4354G>C
c.*784G>C (n.*784G>C)
c.*1850G>C (n.*1850G>C)
n.4479G>C
c.2676G>C (p.Met892Ile)
c.3435G>C (p.Met1145Ile)
c.*3140G>C (n.*3140G>C)
n.3286G>C
c.*3218G>C (n.*3218G>C)
n.377G>C
c.3525G>C (p.Met1175Ile)
c.3483G>C (p.Met1161Ile)
c.3747G>C (p.Met1249Ile)
c.3669G>C (p.Met1223Ile)
c.3636G>C (p.Met1212Ile)
c.3645G>C (p.Met1215Ile)
c.2655G>C (p.Met885Ile)
1g.154584869C>TCA342634557ADARc.3512G>A (n.3512G>A)
c.3648G>A (p.Met1216Ile)
c.3501G>A (p.Met1167Ile)
c.3270G>A (p.Met1090Ile)
c.2733G>A (p.Met911Ile)
c.3618G>A (p.Met1206Ile)
n.2411G>A
c.3540G>A (p.Met1180Ile)
n.3603G>A
c.*1093G>A (n.*1093G>A)
n.4354G>A
c.*784G>A (n.*784G>A)
c.*1850G>A (n.*1850G>A)
n.4479G>A
c.2676G>A (p.Met892Ile)
c.3435G>A (p.Met1145Ile)
c.*3140G>A (n.*3140G>A)
n.3286G>A
c.*3218G>A (n.*3218G>A)
n.377G>A
c.3525G>A (p.Met1175Ile)
c.3483G>A (p.Met1161Ile)
c.3747G>A (p.Met1249Ile)
c.3669G>A (p.Met1223Ile)
c.3636G>A (p.Met1212Ile)
c.3645G>A (p.Met1215Ile)
c.2655G>A (p.Met885Ile)
1g.154584870A>CCA342634562ADARc.3511T>G (n.3511T>G)
c.3647T>G (p.Met1216Arg)
c.3500T>G (p.Met1167Arg)
c.3269T>G (p.Met1090Arg)
c.2732T>G (p.Met911Arg)
c.3617T>G (p.Met1206Arg)
n.2410T>G
c.3539T>G (p.Met1180Arg)
n.3602T>G
c.*1092T>G (n.*1092T>G)
n.4353T>G
c.*783T>G (n.*783T>G)
c.*1849T>G (n.*1849T>G)
n.4478T>G
c.2675T>G (p.Met892Arg)
c.3434T>G (p.Met1145Arg)
c.*3139T>G (n.*3139T>G)
n.3285T>G
c.*3217T>G (n.*3217T>G)
n.376T>G
c.3524T>G (p.Met1175Arg)
c.3482T>G (p.Met1161Arg)
c.3746T>G (p.Met1249Arg)
c.3668T>G (p.Met1223Arg)
c.3635T>G (p.Met1212Arg)
c.3644T>G (p.Met1215Arg)
c.2654T>G (p.Met885Arg)
1g.154584870A>GCA342634560ADARc.3511T>C (n.3511T>C)
c.3647T>C (p.Met1216Thr)
c.3500T>C (p.Met1167Thr)
c.3269T>C (p.Met1090Thr)
c.2732T>C (p.Met911Thr)
c.3617T>C (p.Met1206Thr)
n.2410T>C
c.3539T>C (p.Met1180Thr)
n.3602T>C
c.*1092T>C (n.*1092T>C)
n.4353T>C
c.*783T>C (n.*783T>C)
c.*1849T>C (n.*1849T>C)
n.4478T>C
c.2675T>C (p.Met892Thr)
c.3434T>C (p.Met1145Thr)
c.*3139T>C (n.*3139T>C)
n.3285T>C
c.*3217T>C (n.*3217T>C)
n.376T>C
c.3524T>C (p.Met1175Thr)
c.3482T>C (p.Met1161Thr)
c.3746T>C (p.Met1249Thr)
c.3668T>C (p.Met1223Thr)
c.3635T>C (p.Met1212Thr)
c.3644T>C (p.Met1215Thr)
c.2654T>C (p.Met885Thr)
 gnomAD v4
1g.154584870A>TCA342634561ADARc.3511T>A (n.3511T>A)
c.3647T>A (p.Met1216Lys)
c.3500T>A (p.Met1167Lys)
c.3269T>A (p.Met1090Lys)
c.2732T>A (p.Met911Lys)
c.3617T>A (p.Met1206Lys)
n.2410T>A
c.3539T>A (p.Met1180Lys)
n.3602T>A
c.*1092T>A (n.*1092T>A)
n.4353T>A
c.*783T>A (n.*783T>A)
c.*1849T>A (n.*1849T>A)
n.4478T>A
c.2675T>A (p.Met892Lys)
c.3434T>A (p.Met1145Lys)
c.*3139T>A (n.*3139T>A)
n.3285T>A
c.*3217T>A (n.*3217T>A)
n.376T>A
c.3524T>A (p.Met1175Lys)
c.3482T>A (p.Met1161Lys)
c.3746T>A (p.Met1249Lys)
c.3668T>A (p.Met1223Lys)
c.3635T>A (p.Met1212Lys)
c.3644T>A (p.Met1215Lys)
c.2654T>A (p.Met885Lys)
1g.154584871T>ACA342634563ADARc.3510A>T (n.3510A>T)
c.3646A>T (p.Met1216Leu)
c.3499A>T (p.Met1167Leu)
c.3268A>T (p.Met1090Leu)
c.2731A>T (p.Met911Leu)
c.3616A>T (p.Met1206Leu)
n.2409A>T
c.3538A>T (p.Met1180Leu)
n.3601A>T
c.*1091A>T (n.*1091A>T)
n.4352A>T
c.*782A>T (n.*782A>T)
c.*1848A>T (n.*1848A>T)
n.4477A>T
c.2674A>T (p.Met892Leu)
c.3433A>T (p.Met1145Leu)
c.*3138A>T (n.*3138A>T)
n.3284A>T
c.*3216A>T (n.*3216A>T)
n.375A>T
c.3523A>T (p.Met1175Leu)
c.3481A>T (p.Met1161Leu)
c.3745A>T (p.Met1249Leu)
c.3667A>T (p.Met1223Leu)
c.3634A>T (p.Met1212Leu)
c.3643A>T (p.Met1215Leu)
c.2653A>T (p.Met885Leu)
1g.154584871T>CCA342634564ADARc.3510A>G (n.3510A>G)
c.3646A>G (p.Met1216Val)
c.3499A>G (p.Met1167Val)
c.3268A>G (p.Met1090Val)
c.2731A>G (p.Met911Val)
c.3616A>G (p.Met1206Val)
n.2409A>G
c.3538A>G (p.Met1180Val)
n.3601A>G
c.*1091A>G (n.*1091A>G)
n.4352A>G
c.*782A>G (n.*782A>G)
c.*1848A>G (n.*1848A>G)
n.4477A>G
c.2674A>G (p.Met892Val)
c.3433A>G (p.Met1145Val)
c.*3138A>G (n.*3138A>G)
n.3284A>G
c.*3216A>G (n.*3216A>G)
n.375A>G
c.3523A>G (p.Met1175Val)
c.3481A>G (p.Met1161Val)
c.3745A>G (p.Met1249Val)
c.3667A>G (p.Met1223Val)
c.3634A>G (p.Met1212Val)
c.3643A>G (p.Met1215Val)
c.2653A>G (p.Met885Val)
 gnomAD v4
1g.154584871T>GCA342634565ADARc.3510A>C (n.3510A>C)
c.3646A>C (p.Met1216Leu)
c.3499A>C (p.Met1167Leu)
c.3268A>C (p.Met1090Leu)
c.2731A>C (p.Met911Leu)
c.3616A>C (p.Met1206Leu)
n.2409A>C
c.3538A>C (p.Met1180Leu)
n.3601A>C
c.*1091A>C (n.*1091A>C)
n.4352A>C
c.*782A>C (n.*782A>C)
c.*1848A>C (n.*1848A>C)
n.4477A>C
c.2674A>C (p.Met892Leu)
c.3433A>C (p.Met1145Leu)
c.*3138A>C (n.*3138A>C)
n.3284A>C
c.*3216A>C (n.*3216A>C)
n.375A>C
c.3523A>C (p.Met1175Leu)
c.3481A>C (p.Met1161Leu)
c.3745A>C (p.Met1249Leu)
c.3667A>C (p.Met1223Leu)
c.3634A>C (p.Met1212Leu)
c.3643A>C (p.Met1215Leu)
c.2653A>C (p.Met885Leu)
1g.154584872A>CCA342634566ADARc.3509T>G (n.3509T>G)
c.3645T>G (p.Asp1215Glu)
c.3498T>G (p.Asp1166Glu)
c.3267T>G (p.Asp1089Glu)
c.2730T>G (p.Asp910Glu)
c.3615T>G (p.Asp1205Glu)
n.2408T>G
c.3537T>G (p.Asp1179Glu)
n.3600T>G
c.*1090T>G (n.*1090T>G)
n.4351T>G
c.*781T>G (n.*781T>G)
c.*1847T>G (n.*1847T>G)
n.4476T>G
c.2673T>G (p.Asp891Glu)
c.3432T>G (p.Asp1144Glu)
c.*3137T>G (n.*3137T>G)
n.3283T>G
c.*3215T>G (n.*3215T>G)
n.374T>G
c.3522T>G (p.Asp1174Glu)
c.3480T>G (p.Asp1160Glu)
c.3744T>G (p.Asp1248Glu)
c.3666T>G (p.Asp1222Glu)
c.3633T>G (p.Asp1211Glu)
c.3642T>G (p.Asp1214Glu)
c.2652T>G (p.Asp884Glu)
1g.154584872A>GCA421231394ADARc.3509T>C (n.3509T>C)
c.3645T>C (p.Asp1215=)
c.3498T>C (p.Asp1166=)
c.3267T>C (p.Asp1089=)
c.2730T>C (p.Asp910=)
c.3615T>C (p.Asp1205=)
n.2408T>C
c.3537T>C (p.Asp1179=)
n.3600T>C
c.*1090T>C (n.*1090T>C)
n.4351T>C
c.*781T>C (n.*781T>C)
c.*1847T>C (n.*1847T>C)
n.4476T>C
c.2673T>C (p.Asp891=)
c.3432T>C (p.Asp1144=)
c.*3137T>C (n.*3137T>C)
n.3283T>C
c.*3215T>C (n.*3215T>C)
n.374T>C
c.3522T>C (p.Asp1174=)
c.3480T>C (p.Asp1160=)
c.3744T>C (p.Asp1248=)
c.3666T>C (p.Asp1222=)
c.3633T>C (p.Asp1211=)
c.3642T>C (p.Asp1214=)
c.2652T>C (p.Asp884=)
1g.154584872A>TCA342634567ADARc.3509T>A (n.3509T>A)
c.3645T>A (p.Asp1215Glu)
c.3498T>A (p.Asp1166Glu)
c.3267T>A (p.Asp1089Glu)
c.2730T>A (p.Asp910Glu)
c.3615T>A (p.Asp1205Glu)
n.2408T>A
c.3537T>A (p.Asp1179Glu)
n.3600T>A
c.*1090T>A (n.*1090T>A)
n.4351T>A
c.*781T>A (n.*781T>A)
c.*1847T>A (n.*1847T>A)
n.4476T>A
c.2673T>A (p.Asp891Glu)
c.3432T>A (p.Asp1144Glu)
c.*3137T>A (n.*3137T>A)
n.3283T>A
c.*3215T>A (n.*3215T>A)
n.374T>A
c.3522T>A (p.Asp1174Glu)
c.3480T>A (p.Asp1160Glu)
c.3744T>A (p.Asp1248Glu)
c.3666T>A (p.Asp1222Glu)
c.3633T>A (p.Asp1211Glu)
c.3642T>A (p.Asp1214Glu)
c.2652T>A (p.Asp884Glu)
1g.154584873T>ACA342634570ADARc.3508A>T (n.3508A>T)
c.3644A>T (p.Asp1215Val)
c.3497A>T (p.Asp1166Val)
c.3266A>T (p.Asp1089Val)
c.2729A>T (p.Asp910Val)
c.3614A>T (p.Asp1205Val)
n.2407A>T
c.3536A>T (p.Asp1179Val)
n.3599A>T
c.*1089A>T (n.*1089A>T)
n.4350A>T
c.*780A>T (n.*780A>T)
c.*1846A>T (n.*1846A>T)
n.4475A>T
c.2672A>T (p.Asp891Val)
c.3431A>T (p.Asp1144Val)
c.*3136A>T (n.*3136A>T)
n.3282A>T
c.*3214A>T (n.*3214A>T)
n.373A>T
c.3521A>T (p.Asp1174Val)
c.3479A>T (p.Asp1160Val)
c.3743A>T (p.Asp1248Val)
c.3665A>T (p.Asp1222Val)
c.3632A>T (p.Asp1211Val)
c.3641A>T (p.Asp1214Val)
c.2651A>T (p.Asp884Val)
1g.154584873T>CCA342634568ADARc.3508A>G (n.3508A>G)
c.3644A>G (p.Asp1215Gly)
c.3497A>G (p.Asp1166Gly)
c.3266A>G (p.Asp1089Gly)
c.2729A>G (p.Asp910Gly)
c.3614A>G (p.Asp1205Gly)
n.2407A>G
c.3536A>G (p.Asp1179Gly)
n.3599A>G
c.*1089A>G (n.*1089A>G)
n.4350A>G
c.*780A>G (n.*780A>G)
c.*1846A>G (n.*1846A>G)
n.4475A>G
c.2672A>G (p.Asp891Gly)
c.3431A>G (p.Asp1144Gly)
c.*3136A>G (n.*3136A>G)
n.3282A>G
c.*3214A>G (n.*3214A>G)
n.373A>G
c.3521A>G (p.Asp1174Gly)
c.3479A>G (p.Asp1160Gly)
c.3743A>G (p.Asp1248Gly)
c.3665A>G (p.Asp1222Gly)
c.3632A>G (p.Asp1211Gly)
c.3641A>G (p.Asp1214Gly)
c.2651A>G (p.Asp884Gly)
1g.154584873T>GCA342634569ADARc.3508A>C (n.3508A>C)
c.3644A>C (p.Asp1215Ala)
c.3497A>C (p.Asp1166Ala)
c.3266A>C (p.Asp1089Ala)
c.2729A>C (p.Asp910Ala)
c.3614A>C (p.Asp1205Ala)
n.2407A>C
c.3536A>C (p.Asp1179Ala)
n.3599A>C
c.*1089A>C (n.*1089A>C)
n.4350A>C
c.*780A>C (n.*780A>C)
c.*1846A>C (n.*1846A>C)
n.4475A>C
c.2672A>C (p.Asp891Ala)
c.3431A>C (p.Asp1144Ala)
c.*3136A>C (n.*3136A>C)
n.3282A>C
c.*3214A>C (n.*3214A>C)
n.373A>C
c.3521A>C (p.Asp1174Ala)
c.3479A>C (p.Asp1160Ala)
c.3743A>C (p.Asp1248Ala)
c.3665A>C (p.Asp1222Ala)
c.3632A>C (p.Asp1211Ala)
c.3641A>C (p.Asp1214Ala)
c.2651A>C (p.Asp884Ala)
1g.154584874C>ACA342634571ADARc.3507G>T (n.3507G>T)
c.3643G>T (p.Asp1215Tyr)
c.3496G>T (p.Asp1166Tyr)
c.3265G>T (p.Asp1089Tyr)
c.2728G>T (p.Asp910Tyr)
c.3613G>T (p.Asp1205Tyr)
n.2406G>T
c.3535G>T (p.Asp1179Tyr)
n.3598G>T
c.*1088G>T (n.*1088G>T)
n.4349G>T
c.*779G>T (n.*779G>T)
c.*1845G>T (n.*1845G>T)
n.4474G>T
c.2671G>T (p.Asp891Tyr)
c.3430G>T (p.Asp1144Tyr)
c.*3135G>T (n.*3135G>T)
n.3281G>T
c.*3213G>T (n.*3213G>T)
n.372G>T
c.3520G>T (p.Asp1174Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3742G>T (p.Asp1248Tyr)
c.3664G>T (p.Asp1222Tyr)
c.3631G>T (p.Asp1211Tyr)
c.3640G>T (p.Asp1214Tyr)
c.2650G>T (p.Asp884Tyr)
1g.154584874C>GCA342634572ADARc.3507G>C (n.3507G>C)
c.3643G>C (p.Asp1215His)
c.3496G>C (p.Asp1166His)
c.3265G>C (p.Asp1089His)
c.2728G>C (p.Asp910His)
c.3613G>C (p.Asp1205His)
n.2406G>C
c.3535G>C (p.Asp1179His)
n.3598G>C
c.*1088G>C (n.*1088G>C)
n.4349G>C
c.*779G>C (n.*779G>C)
c.*1845G>C (n.*1845G>C)
n.4474G>C
c.2671G>C (p.Asp891His)
c.3430G>C (p.Asp1144His)
c.*3135G>C (n.*3135G>C)
n.3281G>C
c.*3213G>C (n.*3213G>C)
n.372G>C
c.3520G>C (p.Asp1174His)
c.3478G>C (p.Asp1160His)
c.3742G>C (p.Asp1248His)
c.3664G>C (p.Asp1222His)
c.3631G>C (p.Asp1211His)
c.3640G>C (p.Asp1214His)
c.2650G>C (p.Asp884His)
1g.154584874C>TCA342634573ADARc.3507G>A (n.3507G>A)
c.3643G>A (p.Asp1215Asn)
c.3496G>A (p.Asp1166Asn)
c.3265G>A (p.Asp1089Asn)
c.2728G>A (p.Asp910Asn)
c.3613G>A (p.Asp1205Asn)
n.2406G>A
c.3535G>A (p.Asp1179Asn)
n.3598G>A
c.*1088G>A (n.*1088G>A)
n.4349G>A
c.*779G>A (n.*779G>A)
c.*1845G>A (n.*1845G>A)
n.4474G>A
c.2671G>A (p.Asp891Asn)
c.3430G>A (p.Asp1144Asn)
c.*3135G>A (n.*3135G>A)
n.3281G>A
c.*3213G>A (n.*3213G>A)
n.372G>A
c.3520G>A (p.Asp1174Asn)
c.3478G>A (p.Asp1160Asn)
c.3742G>A (p.Asp1248Asn)
c.3664G>A (p.Asp1222Asn)
c.3631G>A (p.Asp1211Asn)
c.3640G>A (p.Asp1214Asn)
c.2650G>A (p.Asp884Asn)
1g.154584875C>ACA342634574ADARc.3506G>T (n.3506G>T)
c.3642G>T (p.Lys1214Asn)
c.3495G>T (p.Lys1165Asn)
c.3264G>T (p.Lys1088Asn)
c.2727G>T (p.Lys909Asn)
c.3612G>T (p.Lys1204Asn)
n.2405G>T
c.3534G>T (p.Lys1178Asn)
n.3597G>T
c.*1087G>T (n.*1087G>T)
n.4348G>T
c.*778G>T (n.*778G>T)
c.*1844G>T (n.*1844G>T)
n.4473G>T
c.2670G>T (p.Lys890Asn)
c.3429G>T (p.Lys1143Asn)
c.*3134G>T (n.*3134G>T)
n.3280G>T
c.*3212G>T (n.*3212G>T)
n.371G>T
c.3519G>T (p.Lys1173Asn)
c.3477G>T (p.Lys1159Asn)
c.3741G>T (p.Lys1247Asn)
c.3663G>T (p.Lys1221Asn)
c.3630G>T (p.Lys1210Asn)
c.3639G>T (p.Lys1213Asn)
c.2649G>T (p.Lys883Asn)
1g.154584875C>GCA342634575ADARc.3506G>C (n.3506G>C)
c.3642G>C (p.Lys1214Asn)
c.3495G>C (p.Lys1165Asn)
c.3264G>C (p.Lys1088Asn)
c.2727G>C (p.Lys909Asn)
c.3612G>C (p.Lys1204Asn)
n.2405G>C
c.3534G>C (p.Lys1178Asn)
n.3597G>C
c.*1087G>C (n.*1087G>C)
n.4348G>C
c.*778G>C (n.*778G>C)
c.*1844G>C (n.*1844G>C)
n.4473G>C
c.2670G>C (p.Lys890Asn)
c.3429G>C (p.Lys1143Asn)
c.*3134G>C (n.*3134G>C)
n.3280G>C
c.*3212G>C (n.*3212G>C)
n.371G>C
c.3519G>C (p.Lys1173Asn)
c.3477G>C (p.Lys1159Asn)
c.3741G>C (p.Lys1247Asn)
c.3663G>C (p.Lys1221Asn)
c.3630G>C (p.Lys1210Asn)
c.3639G>C (p.Lys1213Asn)
c.2649G>C (p.Lys883Asn)
1g.154584875C>TCA421231399ADARc.3506G>A (n.3506G>A)
c.3642G>A (p.Lys1214=)
c.3495G>A (p.Lys1165=)
c.3264G>A (p.Lys1088=)
c.2727G>A (p.Lys909=)
c.3612G>A (p.Lys1204=)
n.2405G>A
c.3534G>A (p.Lys1178=)
n.3597G>A
c.*1087G>A (n.*1087G>A)
n.4348G>A
c.*778G>A (n.*778G>A)
c.*1844G>A (n.*1844G>A)
n.4473G>A
c.2670G>A (p.Lys890=)
c.3429G>A (p.Lys1143=)
c.*3134G>A (n.*3134G>A)
n.3280G>A
c.*3212G>A (n.*3212G>A)
n.371G>A
c.3519G>A (p.Lys1173=)
c.3477G>A (p.Lys1159=)
c.3741G>A (p.Lys1247=)
c.3663G>A (p.Lys1221=)
c.3630G>A (p.Lys1210=)
c.3639G>A (p.Lys1213=)
c.2649G>A (p.Lys883=)
1g.154584876T>ACA342634576ADARc.3505A>T (n.3505A>T)
c.3641A>T (p.Lys1214Met)
c.3494A>T (p.Lys1165Met)
c.3263A>T (p.Lys1088Met)
c.2726A>T (p.Lys909Met)
c.3611A>T (p.Lys1204Met)
n.2404A>T
c.3533A>T (p.Lys1178Met)
n.3596A>T
c.*1086A>T (n.*1086A>T)
n.4347A>T
c.*777A>T (n.*777A>T)
c.*1843A>T (n.*1843A>T)
n.4472A>T
c.2669A>T (p.Lys890Met)
c.3428A>T (p.Lys1143Met)
c.*3133A>T (n.*3133A>T)
n.3279A>T
c.*3211A>T (n.*3211A>T)
n.370A>T
c.3518A>T (p.Lys1173Met)
c.3476A>T (p.Lys1159Met)
c.3740A>T (p.Lys1247Met)
c.3662A>T (p.Lys1221Met)
c.3629A>T (p.Lys1210Met)
c.3638A>T (p.Lys1213Met)
c.2648A>T (p.Lys883Met)
1g.154584876T>CCA342634578ADARc.3505A>G (n.3505A>G)
c.3641A>G (p.Lys1214Arg)
c.3494A>G (p.Lys1165Arg)
c.3263A>G (p.Lys1088Arg)
c.2726A>G (p.Lys909Arg)
c.3611A>G (p.Lys1204Arg)
n.2404A>G
c.3533A>G (p.Lys1178Arg)
n.3596A>G
c.*1086A>G (n.*1086A>G)
n.4347A>G
c.*777A>G (n.*777A>G)
c.*1843A>G (n.*1843A>G)
n.4472A>G
c.2669A>G (p.Lys890Arg)
c.3428A>G (p.Lys1143Arg)
c.*3133A>G (n.*3133A>G)
n.3279A>G
c.*3211A>G (n.*3211A>G)
n.370A>G
c.3518A>G (p.Lys1173Arg)
c.3476A>G (p.Lys1159Arg)
c.3740A>G (p.Lys1247Arg)
c.3662A>G (p.Lys1221Arg)
c.3629A>G (p.Lys1210Arg)
c.3638A>G (p.Lys1213Arg)
c.2648A>G (p.Lys883Arg)
1g.154584876T>GCA342634577ADARc.3505A>C (n.3505A>C)
c.3641A>C (p.Lys1214Thr)
c.3494A>C (p.Lys1165Thr)
c.3263A>C (p.Lys1088Thr)
c.2726A>C (p.Lys909Thr)
c.3611A>C (p.Lys1204Thr)
n.2404A>C
c.3533A>C (p.Lys1178Thr)
n.3596A>C
c.*1086A>C (n.*1086A>C)
n.4347A>C
c.*777A>C (n.*777A>C)
c.*1843A>C (n.*1843A>C)
n.4472A>C
c.2669A>C (p.Lys890Thr)
c.3428A>C (p.Lys1143Thr)
c.*3133A>C (n.*3133A>C)
n.3279A>C
c.*3211A>C (n.*3211A>C)
n.370A>C
c.3518A>C (p.Lys1173Thr)
c.3476A>C (p.Lys1159Thr)
c.3740A>C (p.Lys1247Thr)
c.3662A>C (p.Lys1221Thr)
c.3629A>C (p.Lys1210Thr)
c.3638A>C (p.Lys1213Thr)
c.2648A>C (p.Lys883Thr)
1g.154584877T>ACA342634579ADARc.3504A>T (n.3504A>T)
c.3640A>T (p.Lys1214Ter)
c.3493A>T (p.Lys1165Ter)
c.3262A>T (p.Lys1088Ter)
c.2725A>T (p.Lys909Ter)
c.3610A>T (p.Lys1204Ter)
n.2403A>T
c.3532A>T (p.Lys1178Ter)
n.3595A>T
c.*1085A>T (n.*1085A>T)
n.4346A>T
c.*776A>T (n.*776A>T)
c.*1842A>T (n.*1842A>T)
n.4471A>T
c.2668A>T (p.Lys890Ter)
c.3427A>T (p.Lys1143Ter)
c.*3132A>T (n.*3132A>T)
n.3278A>T
c.*3210A>T (n.*3210A>T)
n.369A>T
c.3517A>T (p.Lys1173Ter)
c.3475A>T (p.Lys1159Ter)
c.3739A>T (p.Lys1247Ter)
c.3661A>T (p.Lys1221Ter)
c.3628A>T (p.Lys1210Ter)
c.3637A>T (p.Lys1213Ter)
c.2647A>T (p.Lys883Ter)
1g.154584877T>CCA342634580ADARc.3504A>G (n.3504A>G)
c.3640A>G (p.Lys1214Glu)
c.3493A>G (p.Lys1165Glu)
c.3262A>G (p.Lys1088Glu)
c.2725A>G (p.Lys909Glu)
c.3610A>G (p.Lys1204Glu)
n.2403A>G
c.3532A>G (p.Lys1178Glu)
n.3595A>G
c.*1085A>G (n.*1085A>G)
n.4346A>G
c.*776A>G (n.*776A>G)
c.*1842A>G (n.*1842A>G)
n.4471A>G
c.2668A>G (p.Lys890Glu)
c.3427A>G (p.Lys1143Glu)
c.*3132A>G (n.*3132A>G)
n.3278A>G
c.*3210A>G (n.*3210A>G)
n.369A>G
c.3517A>G (p.Lys1173Glu)
c.3475A>G (p.Lys1159Glu)
c.3739A>G (p.Lys1247Glu)
c.3661A>G (p.Lys1221Glu)
c.3628A>G (p.Lys1210Glu)
c.3637A>G (p.Lys1213Glu)
c.2647A>G (p.Lys883Glu)
1g.154584877T>GCA342634581ADARc.3504A>C (n.3504A>C)
c.3640A>C (p.Lys1214Gln)
c.3493A>C (p.Lys1165Gln)
c.3262A>C (p.Lys1088Gln)
c.2725A>C (p.Lys909Gln)
c.3610A>C (p.Lys1204Gln)
n.2403A>C
c.3532A>C (p.Lys1178Gln)
n.3595A>C
c.*1085A>C (n.*1085A>C)
n.4346A>C
c.*776A>C (n.*776A>C)
c.*1842A>C (n.*1842A>C)
n.4471A>C
c.2668A>C (p.Lys890Gln)
c.3427A>C (p.Lys1143Gln)
c.*3132A>C (n.*3132A>C)
n.3278A>C
c.*3210A>C (n.*3210A>C)
n.369A>C
c.3517A>C (p.Lys1173Gln)
c.3475A>C (p.Lys1159Gln)
c.3739A>C (p.Lys1247Gln)
c.3661A>C (p.Lys1221Gln)
c.3628A>C (p.Lys1210Gln)
c.3637A>C (p.Lys1213Gln)
c.2647A>C (p.Lys883Gln)
1g.154584878C>ACA421231400ADARc.3503G>T (n.3503G>T)
c.3639G>T (p.Leu1213=)
c.3492G>T (p.Leu1164=)
c.3261G>T (p.Leu1087=)
c.2724G>T (p.Leu908=)
c.3609G>T (p.Leu1203=)
n.2402G>T
c.3531G>T (p.Leu1177=)
n.3594G>T
c.*1084G>T (n.*1084G>T)
n.4345G>T
c.*775G>T (n.*775G>T)
c.*1841G>T (n.*1841G>T)
n.4470G>T
c.2667G>T (p.Leu889=)
c.3426G>T (p.Leu1142=)
c.*3131G>T (n.*3131G>T)
n.3277G>T
c.*3209G>T (n.*3209G>T)
n.368G>T
c.3516G>T (p.Leu1172=)
c.3474G>T (p.Leu1158=)
c.3738G>T (p.Leu1246=)
c.3660G>T (p.Leu1220=)
c.3627G>T (p.Leu1209=)
c.3636G>T (p.Leu1212=)
c.2646G>T (p.Leu882=)
1g.154584878C>GCA421231401ADARc.3503G>C (n.3503G>C)
c.3639G>C (p.Leu1213=)
c.3492G>C (p.Leu1164=)
c.3261G>C (p.Leu1087=)
c.2724G>C (p.Leu908=)
c.3609G>C (p.Leu1203=)
n.2402G>C
c.3531G>C (p.Leu1177=)
n.3594G>C
c.*1084G>C (n.*1084G>C)
n.4345G>C
c.*775G>C (n.*775G>C)
c.*1841G>C (n.*1841G>C)
n.4470G>C
c.2667G>C (p.Leu889=)
c.3426G>C (p.Leu1142=)
c.*3131G>C (n.*3131G>C)
n.3277G>C
c.*3209G>C (n.*3209G>C)
n.368G>C
c.3516G>C (p.Leu1172=)
c.3474G>C (p.Leu1158=)
c.3738G>C (p.Leu1246=)
c.3660G>C (p.Leu1220=)
c.3627G>C (p.Leu1209=)
c.3636G>C (p.Leu1212=)
c.2646G>C (p.Leu882=)
1g.154584878C>TCA421231402ADARc.3503G>A (n.3503G>A)
c.3639G>A (p.Leu1213=)
c.3492G>A (p.Leu1164=)
c.3261G>A (p.Leu1087=)
c.2724G>A (p.Leu908=)
c.3609G>A (p.Leu1203=)
n.2402G>A
c.3531G>A (p.Leu1177=)
n.3594G>A
c.*1084G>A (n.*1084G>A)
n.4345G>A
c.*775G>A (n.*775G>A)
c.*1841G>A (n.*1841G>A)
n.4470G>A
c.2667G>A (p.Leu889=)
c.3426G>A (p.Leu1142=)
c.*3131G>A (n.*3131G>A)
n.3277G>A
c.*3209G>A (n.*3209G>A)
n.368G>A
c.3516G>A (p.Leu1172=)
c.3474G>A (p.Leu1158=)
c.3738G>A (p.Leu1246=)
c.3660G>A (p.Leu1220=)
c.3627G>A (p.Leu1209=)
c.3636G>A (p.Leu1212=)
c.2646G>A (p.Leu882=)
1g.154584879A>CCA342634582ADARc.3502T>G (n.3502T>G)
c.3638T>G (p.Leu1213Arg)
c.3491T>G (p.Leu1164Arg)
c.3260T>G (p.Leu1087Arg)
c.2723T>G (p.Leu908Arg)
c.3608T>G (p.Leu1203Arg)
n.2401T>G
c.3530T>G (p.Leu1177Arg)
n.3593T>G
c.*1083T>G (n.*1083T>G)
n.4344T>G
c.*774T>G (n.*774T>G)
c.*1840T>G (n.*1840T>G)
n.4469T>G
c.2666T>G (p.Leu889Arg)
c.3425T>G (p.Leu1142Arg)
c.*3130T>G (n.*3130T>G)
n.3276T>G
c.*3208T>G (n.*3208T>G)
n.367T>G
c.3515T>G (p.Leu1172Arg)
c.3473T>G (p.Leu1158Arg)
c.3737T>G (p.Leu1246Arg)
c.3659T>G (p.Leu1220Arg)
c.3626T>G (p.Leu1209Arg)
c.3635T>G (p.Leu1212Arg)
c.2645T>G (p.Leu882Arg)
1g.154584879A>GCA342634583ADARc.3502T>C (n.3502T>C)
c.3638T>C (p.Leu1213Pro)
c.3491T>C (p.Leu1164Pro)
c.3260T>C (p.Leu1087Pro)
c.2723T>C (p.Leu908Pro)
c.3608T>C (p.Leu1203Pro)
n.2401T>C
c.3530T>C (p.Leu1177Pro)
n.3593T>C
c.*1083T>C (n.*1083T>C)
n.4344T>C
c.*774T>C (n.*774T>C)
c.*1840T>C (n.*1840T>C)
n.4469T>C
c.2666T>C (p.Leu889Pro)
c.3425T>C (p.Leu1142Pro)
c.*3130T>C (n.*3130T>C)
n.3276T>C
c.*3208T>C (n.*3208T>C)
n.367T>C
c.3515T>C (p.Leu1172Pro)
c.3473T>C (p.Leu1158Pro)
c.3737T>C (p.Leu1246Pro)
c.3659T>C (p.Leu1220Pro)
c.3626T>C (p.Leu1209Pro)
c.3635T>C (p.Leu1212Pro)
c.2645T>C (p.Leu882Pro)
1g.154584879A>TCA342634584ADARc.3502T>A (n.3502T>A)
c.3638T>A (p.Leu1213Gln)
c.3491T>A (p.Leu1164Gln)
c.3260T>A (p.Leu1087Gln)
c.2723T>A (p.Leu908Gln)
c.3608T>A (p.Leu1203Gln)
n.2401T>A
c.3530T>A (p.Leu1177Gln)
n.3593T>A
c.*1083T>A (n.*1083T>A)
n.4344T>A
c.*774T>A (n.*774T>A)
c.*1840T>A (n.*1840T>A)
n.4469T>A
c.2666T>A (p.Leu889Gln)
c.3425T>A (p.Leu1142Gln)
c.*3130T>A (n.*3130T>A)
n.3276T>A
c.*3208T>A (n.*3208T>A)
n.367T>A
c.3515T>A (p.Leu1172Gln)
c.3473T>A (p.Leu1158Gln)
c.3737T>A (p.Leu1246Gln)
c.3659T>A (p.Leu1220Gln)
c.3626T>A (p.Leu1209Gln)
c.3635T>A (p.Leu1212Gln)
c.2645T>A (p.Leu882Gln)
1g.154584880G>ACA421231406ADARc.3501C>T (n.3501C>T)
c.3637C>T (p.Leu1213=)
c.3490C>T (p.Leu1164=)
c.3259C>T (p.Leu1087=)
c.2722C>T (p.Leu908=)
c.3607C>T (p.Leu1203=)
n.2400C>T
c.3529C>T (p.Leu1177=)
n.3592C>T
c.*1082C>T (n.*1082C>T)
n.4343C>T
c.*773C>T (n.*773C>T)
c.*1839C>T (n.*1839C>T)
n.4468C>T
c.2665C>T (p.Leu889=)
c.3424C>T (p.Leu1142=)
c.*3129C>T (n.*3129C>T)
n.3275C>T
c.*3207C>T (n.*3207C>T)
n.366C>T
c.3514C>T (p.Leu1172=)
c.3472C>T (p.Leu1158=)
c.3736C>T (p.Leu1246=)
c.3658C>T (p.Leu1220=)
c.3625C>T (p.Leu1209=)
c.3634C>T (p.Leu1212=)
c.2644C>T (p.Leu882=)
1g.154584880G>CCA342634585ADARc.3501C>G (n.3501C>G)
c.3637C>G (p.Leu1213Val)
c.3490C>G (p.Leu1164Val)
c.3259C>G (p.Leu1087Val)
c.2722C>G (p.Leu908Val)
c.3607C>G (p.Leu1203Val)
n.2400C>G
c.3529C>G (p.Leu1177Val)
n.3592C>G
c.*1082C>G (n.*1082C>G)
n.4343C>G
c.*773C>G (n.*773C>G)
c.*1839C>G (n.*1839C>G)
n.4468C>G
c.2665C>G (p.Leu889Val)
c.3424C>G (p.Leu1142Val)
c.*3129C>G (n.*3129C>G)
n.3275C>G
c.*3207C>G (n.*3207C>G)
n.366C>G
c.3514C>G (p.Leu1172Val)
c.3472C>G (p.Leu1158Val)
c.3736C>G (p.Leu1246Val)
c.3658C>G (p.Leu1220Val)
c.3625C>G (p.Leu1209Val)
c.3634C>G (p.Leu1212Val)
c.2644C>G (p.Leu882Val)
1g.154584880G>TCA342634586ADARc.3501C>A (n.3501C>A)
c.3637C>A (p.Leu1213Met)
c.3490C>A (p.Leu1164Met)
c.3259C>A (p.Leu1087Met)
c.2722C>A (p.Leu908Met)
c.3607C>A (p.Leu1203Met)
n.2400C>A
c.3529C>A (p.Leu1177Met)
n.3592C>A
c.*1082C>A (n.*1082C>A)
n.4343C>A
c.*773C>A (n.*773C>A)
c.*1839C>A (n.*1839C>A)
n.4468C>A
c.2665C>A (p.Leu889Met)
c.3424C>A (p.Leu1142Met)
c.*3129C>A (n.*3129C>A)
n.3275C>A
c.*3207C>A (n.*3207C>A)
n.366C>A
c.3514C>A (p.Leu1172Met)
c.3472C>A (p.Leu1158Met)
c.3736C>A (p.Leu1246Met)
c.3658C>A (p.Leu1220Met)
c.3625C>A (p.Leu1209Met)
c.3634C>A (p.Leu1212Met)
c.2644C>A (p.Leu882Met)
1g.154584881G>ACA421231408ADARc.3500C>T (n.3500C>T)
c.3636C>T (p.Gly1212=)
c.3489C>T (p.Gly1163=)
c.3258C>T (p.Gly1086=)
c.2721C>T (p.Gly907=)
c.3606C>T (p.Gly1202=)
n.2399C>T
c.3528C>T (p.Gly1176=)
n.3591C>T
c.*1081C>T (n.*1081C>T)
n.4342C>T
c.*772C>T (n.*772C>T)
c.*1838C>T (n.*1838C>T)
n.4467C>T
c.2664C>T (p.Gly888=)
c.3423C>T (p.Gly1141=)
c.*3128C>T (n.*3128C>T)
n.3274C>T
c.*3206C>T (n.*3206C>T)
n.365C>T
c.3513C>T (p.Gly1171=)
c.3471C>T (p.Gly1157=)
c.3735C>T (p.Gly1245=)
c.3657C>T (p.Gly1219=)
c.3624C>T (p.Gly1208=)
c.3633C>T (p.Gly1211=)
c.2643C>T (p.Gly881=)
1g.154584881G>CCA421231409ADARc.3500C>G (n.3500C>G)
c.3636C>G (p.Gly1212=)
c.3489C>G (p.Gly1163=)
c.3258C>G (p.Gly1086=)
c.2721C>G (p.Gly907=)
c.3606C>G (p.Gly1202=)
n.2399C>G
c.3528C>G (p.Gly1176=)
n.3591C>G
c.*1081C>G (n.*1081C>G)
n.4342C>G
c.*772C>G (n.*772C>G)
c.*1838C>G (n.*1838C>G)
n.4467C>G
c.2664C>G (p.Gly888=)
c.3423C>G (p.Gly1141=)
c.*3128C>G (n.*3128C>G)
n.3274C>G
c.*3206C>G (n.*3206C>G)
n.365C>G
c.3513C>G (p.Gly1171=)
c.3471C>G (p.Gly1157=)
c.3735C>G (p.Gly1245=)
c.3657C>G (p.Gly1219=)
c.3624C>G (p.Gly1208=)
c.3633C>G (p.Gly1211=)
c.2643C>G (p.Gly881=)
1g.154584881G>TCA421231410ADARc.3500C>A (n.3500C>A)
c.3636C>A (p.Gly1212=)
c.3489C>A (p.Gly1163=)
c.3258C>A (p.Gly1086=)
c.2721C>A (p.Gly907=)
c.3606C>A (p.Gly1202=)
n.2399C>A
c.3528C>A (p.Gly1176=)
n.3591C>A
c.*1081C>A (n.*1081C>A)
n.4342C>A
c.*772C>A (n.*772C>A)
c.*1838C>A (n.*1838C>A)
n.4467C>A
c.2664C>A (p.Gly888=)
c.3423C>A (p.Gly1141=)
c.*3128C>A (n.*3128C>A)
n.3274C>A
c.*3206C>A (n.*3206C>A)
n.365C>A
c.3513C>A (p.Gly1171=)
c.3471C>A (p.Gly1157=)
c.3735C>A (p.Gly1245=)
c.3657C>A (p.Gly1219=)
c.3624C>A (p.Gly1208=)
c.3633C>A (p.Gly1211=)
c.2643C>A (p.Gly881=)
1g.154584882C>ACA342634587ADARc.3499G>T (n.3499G>T)
c.3635G>T (p.Gly1212Val)
c.3488G>T (p.Gly1163Val)
c.3257G>T (p.Gly1086Val)
c.2720G>T (p.Gly907Val)
c.3605G>T (p.Gly1202Val)
n.2398G>T
c.3527G>T (p.Gly1176Val)
n.3590G>T
c.*1080G>T (n.*1080G>T)
n.4341G>T
c.*771G>T (n.*771G>T)
c.*1837G>T (n.*1837G>T)
n.4466G>T
c.2663G>T (p.Gly888Val)
c.3422G>T (p.Gly1141Val)
c.*3127G>T (n.*3127G>T)
n.3273G>T
c.*3205G>T (n.*3205G>T)
n.364G>T
c.3512G>T (p.Gly1171Val)
c.3470G>T (p.Gly1157Val)
c.3734G>T (p.Gly1245Val)
c.3656G>T (p.Gly1219Val)
c.3623G>T (p.Gly1208Val)
c.3632G>T (p.Gly1211Val)
c.2642G>T (p.Gly881Val)
 ClinVar
1g.154584882C>GCA342634588ADARc.3499G>C (n.3499G>C)
c.3635G>C (p.Gly1212Ala)
c.3488G>C (p.Gly1163Ala)
c.3257G>C (p.Gly1086Ala)
c.2720G>C (p.Gly907Ala)
c.3605G>C (p.Gly1202Ala)
n.2398G>C
c.3527G>C (p.Gly1176Ala)
n.3590G>C
c.*1080G>C (n.*1080G>C)
n.4341G>C
c.*771G>C (n.*771G>C)
c.*1837G>C (n.*1837G>C)
n.4466G>C
c.2663G>C (p.Gly888Ala)
c.3422G>C (p.Gly1141Ala)
c.*3127G>C (n.*3127G>C)
n.3273G>C
c.*3205G>C (n.*3205G>C)
n.364G>C
c.3512G>C (p.Gly1171Ala)
c.3470G>C (p.Gly1157Ala)
c.3734G>C (p.Gly1245Ala)
c.3656G>C (p.Gly1219Ala)
c.3623G>C (p.Gly1208Ala)
c.3632G>C (p.Gly1211Ala)
c.2642G>C (p.Gly881Ala)
 ClinVar
1g.154584882C>TCA342634589ADARc.3499G>A (n.3499G>A)
c.3635G>A (p.Gly1212Asp)
c.3488G>A (p.Gly1163Asp)
c.3257G>A (p.Gly1086Asp)
c.2720G>A (p.Gly907Asp)
c.3605G>A (p.Gly1202Asp)
n.2398G>A
c.3527G>A (p.Gly1176Asp)
n.3590G>A
c.*1080G>A (n.*1080G>A)
n.4341G>A
c.*771G>A (n.*771G>A)
c.*1837G>A (n.*1837G>A)
n.4466G>A
c.2663G>A (p.Gly888Asp)
c.3422G>A (p.Gly1141Asp)
c.*3127G>A (n.*3127G>A)
n.3273G>A
c.*3205G>A (n.*3205G>A)
n.364G>A
c.3512G>A (p.Gly1171Asp)
c.3470G>A (p.Gly1157Asp)
c.3734G>A (p.Gly1245Asp)
c.3656G>A (p.Gly1219Asp)
c.3623G>A (p.Gly1208Asp)
c.3632G>A (p.Gly1211Asp)
c.2642G>A (p.Gly881Asp)
1g.154584883C>ACA342634592ADARc.3498G>T (n.3498G>T)
c.3634G>T (p.Gly1212Cys)
c.3487G>T (p.Gly1163Cys)
c.3256G>T (p.Gly1086Cys)
c.2719G>T (p.Gly907Cys)
c.3604G>T (p.Gly1202Cys)
n.2397G>T
c.3526G>T (p.Gly1176Cys)
n.3589G>T
c.*1079G>T (n.*1079G>T)
n.4340G>T
c.*770G>T (n.*770G>T)
c.*1836G>T (n.*1836G>T)
n.4465G>T
c.2662G>T (p.Gly888Cys)
c.3421G>T (p.Gly1141Cys)
c.*3126G>T (n.*3126G>T)
n.3272G>T
c.*3204G>T (n.*3204G>T)
n.363G>T
c.3511G>T (p.Gly1171Cys)
c.3469G>T (p.Gly1157Cys)
c.3733G>T (p.Gly1245Cys)
c.3655G>T (p.Gly1219Cys)
c.3622G>T (p.Gly1208Cys)
c.3631G>T (p.Gly1211Cys)
c.2641G>T (p.Gly881Cys)
1g.154584883C>GCA342634591ADARc.3498G>C (n.3498G>C)
c.3634G>C (p.Gly1212Arg)
c.3487G>C (p.Gly1163Arg)
c.3256G>C (p.Gly1086Arg)
c.2719G>C (p.Gly907Arg)
c.3604G>C (p.Gly1202Arg)
n.2397G>C
c.3526G>C (p.Gly1176Arg)
n.3589G>C
c.*1079G>C (n.*1079G>C)
n.4340G>C
c.*770G>C (n.*770G>C)
c.*1836G>C (n.*1836G>C)
n.4465G>C
c.2662G>C (p.Gly888Arg)
c.3421G>C (p.Gly1141Arg)
c.*3126G>C (n.*3126G>C)
n.3272G>C
c.*3204G>C (n.*3204G>C)
n.363G>C
c.3511G>C (p.Gly1171Arg)
c.3469G>C (p.Gly1157Arg)
c.3733G>C (p.Gly1245Arg)
c.3655G>C (p.Gly1219Arg)
c.3622G>C (p.Gly1208Arg)
c.3631G>C (p.Gly1211Arg)
c.2641G>C (p.Gly881Arg)
1g.154584883C>TCA342634590ADARc.3498G>A (n.3498G>A)
c.3634G>A (p.Gly1212Ser)
c.3487G>A (p.Gly1163Ser)
c.3256G>A (p.Gly1086Ser)
c.2719G>A (p.Gly907Ser)
c.3604G>A (p.Gly1202Ser)
n.2397G>A
c.3526G>A (p.Gly1176Ser)
n.3589G>A
c.*1079G>A (n.*1079G>A)
n.4340G>A
c.*770G>A (n.*770G>A)
c.*1836G>A (n.*1836G>A)
n.4465G>A
c.2662G>A (p.Gly888Ser)
c.3421G>A (p.Gly1141Ser)
c.*3126G>A (n.*3126G>A)
n.3272G>A
c.*3204G>A (n.*3204G>A)
n.363G>A
c.3511G>A (p.Gly1171Ser)
c.3469G>A (p.Gly1157Ser)
c.3733G>A (p.Gly1245Ser)
c.3655G>A (p.Gly1219Ser)
c.3622G>A (p.Gly1208Ser)
c.3631G>A (p.Gly1211Ser)
c.2641G>A (p.Gly881Ser)
1g.154584884T>ACA342634593ADARc.3497A>T (n.3497A>T)
c.3633A>T (p.Lys1211Asn)
c.3486A>T (p.Lys1162Asn)
c.3255A>T (p.Lys1085Asn)
c.2718A>T (p.Lys906Asn)
c.3603A>T (p.Lys1201Asn)
n.2396A>T
c.3525A>T (p.Lys1175Asn)
n.3588A>T
c.*1078A>T (n.*1078A>T)
n.4339A>T
c.*769A>T (n.*769A>T)
c.*1835A>T (n.*1835A>T)
n.4464A>T
c.2661A>T (p.Lys887Asn)
c.3420A>T (p.Lys1140Asn)
c.*3125A>T (n.*3125A>T)
n.3271A>T
c.*3203A>T (n.*3203A>T)
n.362A>T
c.3510A>T (p.Lys1170Asn)
c.3468A>T (p.Lys1156Asn)
c.3732A>T (p.Lys1244Asn)
c.3654A>T (p.Lys1218Asn)
c.3621A>T (p.Lys1207Asn)
c.3630A>T (p.Lys1210Asn)
c.2640A>T (p.Lys880Asn)
1g.154584884T>CCA421231414ADARc.3497A>G (n.3497A>G)
c.3633A>G (p.Lys1211=)
c.3486A>G (p.Lys1162=)
c.3255A>G (p.Lys1085=)
c.2718A>G (p.Lys906=)
c.3603A>G (p.Lys1201=)
n.2396A>G
c.3525A>G (p.Lys1175=)
n.3588A>G
c.*1078A>G (n.*1078A>G)
n.4339A>G
c.*769A>G (n.*769A>G)
c.*1835A>G (n.*1835A>G)
n.4464A>G
c.2661A>G (p.Lys887=)
c.3420A>G (p.Lys1140=)
c.*3125A>G (n.*3125A>G)
n.3271A>G
c.*3203A>G (n.*3203A>G)
n.362A>G
c.3510A>G (p.Lys1170=)
c.3468A>G (p.Lys1156=)
c.3732A>G (p.Lys1244=)
c.3654A>G (p.Lys1218=)
c.3621A>G (p.Lys1207=)
c.3630A>G (p.Lys1210=)
c.2640A>G (p.Lys880=)
1g.154584884T>GCA342634594ADARc.3497A>C (n.3497A>C)
c.3633A>C (p.Lys1211Asn)
c.3486A>C (p.Lys1162Asn)
c.3255A>C (p.Lys1085Asn)
c.2718A>C (p.Lys906Asn)
c.3603A>C (p.Lys1201Asn)
n.2396A>C
c.3525A>C (p.Lys1175Asn)
n.3588A>C
c.*1078A>C (n.*1078A>C)
n.4339A>C
c.*769A>C (n.*769A>C)
c.*1835A>C (n.*1835A>C)
n.4464A>C
c.2661A>C (p.Lys887Asn)
c.3420A>C (p.Lys1140Asn)
c.*3125A>C (n.*3125A>C)
n.3271A>C
c.*3203A>C (n.*3203A>C)
n.362A>C
c.3510A>C (p.Lys1170Asn)
c.3468A>C (p.Lys1156Asn)
c.3732A>C (p.Lys1244Asn)
c.3654A>C (p.Lys1218Asn)
c.3621A>C (p.Lys1207Asn)
c.3630A>C (p.Lys1210Asn)
c.2640A>C (p.Lys880Asn)
1g.154584889delCA2586967334ADARc.3497del (n.3497del)
c.3633del (p.Gly1212AlafsTer2)
c.3486del (p.Gly1163AlafsTer2)
c.3255del (p.Gly1086AlafsTer2)
c.2718del (p.Gly907AlafsTer2)
c.3603del (p.Gly1202AlafsTer2)
n.2396del
c.3525del (p.Gly1176AlafsTer2)
n.3588del
c.*1078del (n.*1078del)
n.4339del
c.*769del (n.*769del)
c.*1835del (n.*1835del)
n.4464del
c.2661del (p.Gly888AlafsTer2)
c.3420del (p.Gly1141AlafsTer2)
c.*3125del (n.*3125del)
n.3271del
c.*3203del (n.*3203del)
n.362del
c.3510del (p.Gly1171AlafsTer2)
c.3468del (p.Gly1157AlafsTer2)
c.3732del (p.Gly1245AlafsTer2)
c.3654del (p.Gly1219AlafsTer2)
c.3621del (p.Gly1208AlafsTer2)
c.3630del (p.Gly1211AlafsTer2)
c.2640del (p.Gly881AlafsTer2)
1g.154584885T>ACA342634595ADARc.3496A>T (n.3496A>T)
c.3632A>T (p.Lys1211Ile)
c.3485A>T (p.Lys1162Ile)
c.3254A>T (p.Lys1085Ile)
c.2717A>T (p.Lys906Ile)
c.3602A>T (p.Lys1201Ile)
n.2395A>T
c.3524A>T (p.Lys1175Ile)
n.3587A>T
c.*1077A>T (n.*1077A>T)
n.4338A>T
c.*768A>T (n.*768A>T)
c.*1834A>T (n.*1834A>T)
n.4463A>T
c.2660A>T (p.Lys887Ile)
c.3419A>T (p.Lys1140Ile)
c.*3124A>T (n.*3124A>T)
n.3270A>T
c.*3202A>T (n.*3202A>T)
n.361A>T
c.3509A>T (p.Lys1170Ile)
c.3467A>T (p.Lys1156Ile)
c.3731A>T (p.Lys1244Ile)
c.3653A>T (p.Lys1218Ile)
c.3620A>T (p.Lys1207Ile)
c.3629A>T (p.Lys1210Ile)
c.2639A>T (p.Lys880Ile)
1g.154584885T>CCA342634596ADARc.3496A>G (n.3496A>G)
c.3632A>G (p.Lys1211Arg)
c.3485A>G (p.Lys1162Arg)
c.3254A>G (p.Lys1085Arg)
c.2717A>G (p.Lys906Arg)
c.3602A>G (p.Lys1201Arg)
n.2395A>G
c.3524A>G (p.Lys1175Arg)
n.3587A>G
c.*1077A>G (n.*1077A>G)
n.4338A>G
c.*768A>G (n.*768A>G)
c.*1834A>G (n.*1834A>G)
n.4463A>G
c.2660A>G (p.Lys887Arg)
c.3419A>G (p.Lys1140Arg)
c.*3124A>G (n.*3124A>G)
n.3270A>G
c.*3202A>G (n.*3202A>G)
n.361A>G
c.3509A>G (p.Lys1170Arg)
c.3467A>G (p.Lys1156Arg)
c.3731A>G (p.Lys1244Arg)
c.3653A>G (p.Lys1218Arg)
c.3620A>G (p.Lys1207Arg)
c.3629A>G (p.Lys1210Arg)
c.2639A>G (p.Lys880Arg)
 gnomAD v4
1g.154584885T>GCA342634597ADARc.3496A>C (n.3496A>C)
c.3632A>C (p.Lys1211Thr)
c.3485A>C (p.Lys1162Thr)
c.3254A>C (p.Lys1085Thr)
c.2717A>C (p.Lys906Thr)
c.3602A>C (p.Lys1201Thr)
n.2395A>C
c.3524A>C (p.Lys1175Thr)
n.3587A>C
c.*1077A>C (n.*1077A>C)
n.4338A>C
c.*768A>C (n.*768A>C)
c.*1834A>C (n.*1834A>C)
n.4463A>C
c.2660A>C (p.Lys887Thr)
c.3419A>C (p.Lys1140Thr)
c.*3124A>C (n.*3124A>C)
n.3270A>C
c.*3202A>C (n.*3202A>C)
n.361A>C
c.3509A>C (p.Lys1170Thr)
c.3467A>C (p.Lys1156Thr)
c.3731A>C (p.Lys1244Thr)
c.3653A>C (p.Lys1218Thr)
c.3620A>C (p.Lys1207Thr)
c.3629A>C (p.Lys1210Thr)
c.2639A>C (p.Lys880Thr)
1g.154584886T>ACA342634598ADARc.3495A>T (n.3495A>T)
c.3631A>T (p.Lys1211Ter)
c.3484A>T (p.Lys1162Ter)
c.3253A>T (p.Lys1085Ter)
c.2716A>T (p.Lys906Ter)
c.3601A>T (p.Lys1201Ter)
n.2394A>T
c.3523A>T (p.Lys1175Ter)
n.3586A>T
c.*1076A>T (n.*1076A>T)
n.4337A>T
c.*767A>T (n.*767A>T)
c.*1833A>T (n.*1833A>T)
n.4462A>T
c.2659A>T (p.Lys887Ter)
c.3418A>T (p.Lys1140Ter)
c.*3123A>T (n.*3123A>T)
n.3269A>T
c.*3201A>T (n.*3201A>T)
n.360A>T
c.3508A>T (p.Lys1170Ter)
c.3466A>T (p.Lys1156Ter)
c.3730A>T (p.Lys1244Ter)
c.3652A>T (p.Lys1218Ter)
c.3619A>T (p.Lys1207Ter)
c.3628A>T (p.Lys1210Ter)
c.2638A>T (p.Lys880Ter)
1g.154584886T>CCA342634599ADARc.3495A>G (n.3495A>G)
c.3631A>G (p.Lys1211Glu)
c.3484A>G (p.Lys1162Glu)
c.3253A>G (p.Lys1085Glu)
c.2716A>G (p.Lys906Glu)
c.3601A>G (p.Lys1201Glu)
n.2394A>G
c.3523A>G (p.Lys1175Glu)
n.3586A>G
c.*1076A>G (n.*1076A>G)
n.4337A>G
c.*767A>G (n.*767A>G)
c.*1833A>G (n.*1833A>G)
n.4462A>G
c.2659A>G (p.Lys887Glu)
c.3418A>G (p.Lys1140Glu)
c.*3123A>G (n.*3123A>G)
n.3269A>G
c.*3201A>G (n.*3201A>G)
n.360A>G
c.3508A>G (p.Lys1170Glu)
c.3466A>G (p.Lys1156Glu)
c.3730A>G (p.Lys1244Glu)
c.3652A>G (p.Lys1218Glu)
c.3619A>G (p.Lys1207Glu)
c.3628A>G (p.Lys1210Glu)
c.2638A>G (p.Lys880Glu)
1g.154584886T>GCA342634600ADARc.3495A>C (n.3495A>C)
c.3631A>C (p.Lys1211Gln)
c.3484A>C (p.Lys1162Gln)
c.3253A>C (p.Lys1085Gln)
c.2716A>C (p.Lys906Gln)
c.3601A>C (p.Lys1201Gln)
n.2394A>C
c.3523A>C (p.Lys1175Gln)
n.3586A>C
c.*1076A>C (n.*1076A>C)
n.4337A>C
c.*767A>C (n.*767A>C)
c.*1833A>C (n.*1833A>C)
n.4462A>C
c.2659A>C (p.Lys887Gln)
c.3418A>C (p.Lys1140Gln)
c.*3123A>C (n.*3123A>C)
n.3269A>C
c.*3201A>C (n.*3201A>C)
n.360A>C
c.3508A>C (p.Lys1170Gln)
c.3466A>C (p.Lys1156Gln)
c.3730A>C (p.Lys1244Gln)
c.3652A>C (p.Lys1218Gln)
c.3619A>C (p.Lys1207Gln)
c.3628A>C (p.Lys1210Gln)
c.2638A>C (p.Lys880Gln)
1g.154584887T>ACA342634601ADARc.3494A>T (n.3494A>T)
c.3630A>T (p.Lys1210Asn)
c.3483A>T (p.Lys1161Asn)
c.3252A>T (p.Lys1084Asn)
c.2715A>T (p.Lys905Asn)
c.3600A>T (p.Lys1200Asn)
n.2393A>T
c.3522A>T (p.Lys1174Asn)
n.3585A>T
c.*1075A>T (n.*1075A>T)
n.4336A>T
c.*766A>T (n.*766A>T)
c.*1832A>T (n.*1832A>T)
n.4461A>T
c.2658A>T (p.Lys886Asn)
c.3417A>T (p.Lys1139Asn)
c.*3122A>T (n.*3122A>T)
n.3268A>T
c.*3200A>T (n.*3200A>T)
n.359A>T
c.3507A>T (p.Lys1169Asn)
c.3465A>T (p.Lys1155Asn)
c.3729A>T (p.Lys1243Asn)
c.3651A>T (p.Lys1217Asn)
c.3618A>T (p.Lys1206Asn)
c.3627A>T (p.Lys1209Asn)
c.2637A>T (p.Lys879Asn)
1g.154584887T>CCA421231416ADARc.3494A>G (n.3494A>G)
c.3630A>G (p.Lys1210=)
c.3483A>G (p.Lys1161=)
c.3252A>G (p.Lys1084=)
c.2715A>G (p.Lys905=)
c.3600A>G (p.Lys1200=)
n.2393A>G
c.3522A>G (p.Lys1174=)
n.3585A>G
c.*1075A>G (n.*1075A>G)
n.4336A>G
c.*766A>G (n.*766A>G)
c.*1832A>G (n.*1832A>G)
n.4461A>G
c.2658A>G (p.Lys886=)
c.3417A>G (p.Lys1139=)
c.*3122A>G (n.*3122A>G)
n.3268A>G
c.*3200A>G (n.*3200A>G)
n.359A>G
c.3507A>G (p.Lys1169=)
c.3465A>G (p.Lys1155=)
c.3729A>G (p.Lys1243=)
c.3651A>G (p.Lys1217=)
c.3618A>G (p.Lys1206=)
c.3627A>G (p.Lys1209=)
c.2637A>G (p.Lys879=)
1g.154584887T>GCA342634602ADARc.3494A>C (n.3494A>C)
c.3630A>C (p.Lys1210Asn)
c.3483A>C (p.Lys1161Asn)
c.3252A>C (p.Lys1084Asn)
c.2715A>C (p.Lys905Asn)
c.3600A>C (p.Lys1200Asn)
n.2393A>C
c.3522A>C (p.Lys1174Asn)
n.3585A>C
c.*1075A>C (n.*1075A>C)
n.4336A>C
c.*766A>C (n.*766A>C)
c.*1832A>C (n.*1832A>C)
n.4461A>C
c.2658A>C (p.Lys886Asn)
c.3417A>C (p.Lys1139Asn)
c.*3122A>C (n.*3122A>C)
n.3268A>C
c.*3200A>C (n.*3200A>C)
n.359A>C
c.3507A>C (p.Lys1169Asn)
c.3465A>C (p.Lys1155Asn)
c.3729A>C (p.Lys1243Asn)
c.3651A>C (p.Lys1217Asn)
c.3618A>C (p.Lys1206Asn)
c.3627A>C (p.Lys1209Asn)
c.2637A>C (p.Lys879Asn)
1g.154584888T>ACA342634603ADARc.3493A>T (n.3493A>T)
c.3629A>T (p.Lys1210Ile)
c.3482A>T (p.Lys1161Ile)
c.3251A>T (p.Lys1084Ile)
c.2714A>T (p.Lys905Ile)
c.3599A>T (p.Lys1200Ile)
n.2392A>T
c.3521A>T (p.Lys1174Ile)
n.3584A>T
c.*1074A>T (n.*1074A>T)
n.4335A>T
c.*765A>T (n.*765A>T)
c.*1831A>T (n.*1831A>T)
n.4460A>T
c.2657A>T (p.Lys886Ile)
c.3416A>T (p.Lys1139Ile)
c.*3121A>T (n.*3121A>T)
n.3267A>T
c.*3199A>T (n.*3199A>T)
n.358A>T
c.3506A>T (p.Lys1169Ile)
c.3464A>T (p.Lys1155Ile)
c.3728A>T (p.Lys1243Ile)
c.3650A>T (p.Lys1217Ile)
c.3617A>T (p.Lys1206Ile)
c.3626A>T (p.Lys1209Ile)
c.2636A>T (p.Lys879Ile)
1g.154584888T>CCA342634604ADARc.3493A>G (n.3493A>G)
c.3629A>G (p.Lys1210Arg)
c.3482A>G (p.Lys1161Arg)
c.3251A>G (p.Lys1084Arg)
c.2714A>G (p.Lys905Arg)
c.3599A>G (p.Lys1200Arg)
n.2392A>G
c.3521A>G (p.Lys1174Arg)
n.3584A>G
c.*1074A>G (n.*1074A>G)
n.4335A>G
c.*765A>G (n.*765A>G)
c.*1831A>G (n.*1831A>G)
n.4460A>G
c.2657A>G (p.Lys886Arg)
c.3416A>G (p.Lys1139Arg)
c.*3121A>G (n.*3121A>G)
n.3267A>G
c.*3199A>G (n.*3199A>G)
n.358A>G
c.3506A>G (p.Lys1169Arg)
c.3464A>G (p.Lys1155Arg)
c.3728A>G (p.Lys1243Arg)
c.3650A>G (p.Lys1217Arg)
c.3617A>G (p.Lys1206Arg)
c.3626A>G (p.Lys1209Arg)
c.2636A>G (p.Lys879Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.154584888T>GCA342634605ADARc.3493A>C (n.3493A>C)
c.3629A>C (p.Lys1210Thr)
c.3482A>C (p.Lys1161Thr)
c.3251A>C (p.Lys1084Thr)
c.2714A>C (p.Lys905Thr)
c.3599A>C (p.Lys1200Thr)
n.2392A>C
c.3521A>C (p.Lys1174Thr)
n.3584A>C
c.*1074A>C (n.*1074A>C)
n.4335A>C
c.*765A>C (n.*765A>C)
c.*1831A>C (n.*1831A>C)
n.4460A>C
c.2657A>C (p.Lys886Thr)
c.3416A>C (p.Lys1139Thr)
c.*3121A>C (n.*3121A>C)
n.3267A>C
c.*3199A>C (n.*3199A>C)
n.358A>C
c.3506A>C (p.Lys1169Thr)
c.3464A>C (p.Lys1155Thr)
c.3728A>C (p.Lys1243Thr)
c.3650A>C (p.Lys1217Thr)
c.3617A>C (p.Lys1206Thr)
c.3626A>C (p.Lys1209Thr)
c.2636A>C (p.Lys879Thr)
1g.154584888T=CA2480931192ADARc.3493A= (n.3493A=)
c.3629A= (p.Lys1210=)
c.3482A= (p.Lys1161=)
c.3251A= (p.Lys1084=)
c.2714A= (p.Lys905=)
c.3599A= (p.Lys1200=)
n.2392A=
c.3521A= (p.Lys1174=)
n.3584A=
c.*1074A= (n.*1074A=)
n.4335A=
c.*765A= (n.*765A=)
c.*1831A= (n.*1831A=)
n.4460A=
c.2657A= (p.Lys886=)
c.3416A= (p.Lys1139=)
c.*3121A= (n.*3121A=)
n.3267A=
c.*3199A= (n.*3199A=)
n.358A=
c.3506A= (p.Lys1169=)
c.3464A= (p.Lys1155=)
c.3728A= (p.Lys1243=)
c.3650A= (p.Lys1217=)
c.3617A= (p.Lys1206=)
c.3626A= (p.Lys1209=)
c.2636A= (p.Lys879=)
1g.154584889T>ACA342634607ADARc.3492A>T (n.3492A>T)
c.3628A>T (p.Lys1210Ter)
c.3481A>T (p.Lys1161Ter)
c.3250A>T (p.Lys1084Ter)
c.2713A>T (p.Lys905Ter)
c.3598A>T (p.Lys1200Ter)
n.2391A>T
c.3520A>T (p.Lys1174Ter)
n.3583A>T
c.*1073A>T (n.*1073A>T)
n.4334A>T
c.*764A>T (n.*764A>T)
c.*1830A>T (n.*1830A>T)
n.4459A>T
c.2656A>T (p.Lys886Ter)
c.3415A>T (p.Lys1139Ter)
c.*3120A>T (n.*3120A>T)
n.3266A>T
c.*3198A>T (n.*3198A>T)
n.357A>T
c.3505A>T (p.Lys1169Ter)
c.3463A>T (p.Lys1155Ter)
c.3727A>T (p.Lys1243Ter)
c.3649A>T (p.Lys1217Ter)
c.3616A>T (p.Lys1206Ter)
c.3625A>T (p.Lys1209Ter)
c.2635A>T (p.Lys879Ter)
1g.154584889T>CCA342634608ADARc.3492A>G (n.3492A>G)
c.3628A>G (p.Lys1210Glu)
c.3481A>G (p.Lys1161Glu)
c.3250A>G (p.Lys1084Glu)
c.2713A>G (p.Lys905Glu)
c.3598A>G (p.Lys1200Glu)
n.2391A>G
c.3520A>G (p.Lys1174Glu)
n.3583A>G
c.*1073A>G (n.*1073A>G)
n.4334A>G
c.*764A>G (n.*764A>G)
c.*1830A>G (n.*1830A>G)
n.4459A>G
c.2656A>G (p.Lys886Glu)
c.3415A>G (p.Lys1139Glu)
c.*3120A>G (n.*3120A>G)
n.3266A>G
c.*3198A>G (n.*3198A>G)
n.357A>G
c.3505A>G (p.Lys1169Glu)
c.3463A>G (p.Lys1155Glu)
c.3727A>G (p.Lys1243Glu)
c.3649A>G (p.Lys1217Glu)
c.3616A>G (p.Lys1206Glu)
c.3625A>G (p.Lys1209Glu)
c.2635A>G (p.Lys879Glu)
1g.154584889T>GCA342634606ADARc.3492A>C (n.3492A>C)
c.3628A>C (p.Lys1210Gln)
c.3481A>C (p.Lys1161Gln)
c.3250A>C (p.Lys1084Gln)
c.2713A>C (p.Lys905Gln)
c.3598A>C (p.Lys1200Gln)
n.2391A>C
c.3520A>C (p.Lys1174Gln)
n.3583A>C
c.*1073A>C (n.*1073A>C)
n.4334A>C
c.*764A>C (n.*764A>C)
c.*1830A>C (n.*1830A>C)
n.4459A>C
c.2656A>C (p.Lys886Gln)
c.3415A>C (p.Lys1139Gln)
c.*3120A>C (n.*3120A>C)
n.3266A>C
c.*3198A>C (n.*3198A>C)
n.357A>C
c.3505A>C (p.Lys1169Gln)
c.3463A>C (p.Lys1155Gln)
c.3727A>C (p.Lys1243Gln)
c.3649A>C (p.Lys1217Gln)
c.3616A>C (p.Lys1206Gln)
c.3625A>C (p.Lys1209Gln)
c.2635A>C (p.Lys879Gln)
 ClinVar dbSNP gnomAD v4
1g.154584890G>ACA421231419ADARc.3491C>T (n.3491C>T)
c.3627C>T (p.Phe1209=)
c.3480C>T (p.Phe1160=)
c.3249C>T (p.Phe1083=)
c.2712C>T (p.Phe904=)
c.3597C>T (p.Phe1199=)
n.2390C>T
c.3519C>T (p.Phe1173=)
n.3582C>T
c.*1072C>T (n.*1072C>T)
n.4333C>T
c.*763C>T (n.*763C>T)
c.*1829C>T (n.*1829C>T)
n.4458C>T
c.2655C>T (p.Phe885=)
c.3414C>T (p.Phe1138=)
c.*3119C>T (n.*3119C>T)
n.3265C>T
c.*3197C>T (n.*3197C>T)
n.356C>T
c.3504C>T (p.Phe1168=)
c.3462C>T (p.Phe1154=)
c.3726C>T (p.Phe1242=)
c.3648C>T (p.Phe1216=)
c.3615C>T (p.Phe1205=)
c.3624C>T (p.Phe1208=)
c.2634C>T (p.Phe878=)
 dbSNP gnomAD v2 gnomAD v4
1g.154584890G>CCA342634609ADARc.3491C>G (n.3491C>G)
c.3627C>G (p.Phe1209Leu)
c.3480C>G (p.Phe1160Leu)
c.3249C>G (p.Phe1083Leu)
c.2712C>G (p.Phe904Leu)
c.3597C>G (p.Phe1199Leu)
n.2390C>G
c.3519C>G (p.Phe1173Leu)
n.3582C>G
c.*1072C>G (n.*1072C>G)
n.4333C>G
c.*763C>G (n.*763C>G)
c.*1829C>G (n.*1829C>G)
n.4458C>G
c.2655C>G (p.Phe885Leu)
c.3414C>G (p.Phe1138Leu)
c.*3119C>G (n.*3119C>G)
n.3265C>G
c.*3197C>G (n.*3197C>G)
n.356C>G
c.3504C>G (p.Phe1168Leu)
c.3462C>G (p.Phe1154Leu)
c.3726C>G (p.Phe1242Leu)
c.3648C>G (p.Phe1216Leu)
c.3615C>G (p.Phe1205Leu)
c.3624C>G (p.Phe1208Leu)
c.2634C>G (p.Phe878Leu)
1g.154584890G=CA2480931193ADARc.3491C= (n.3491C=)
c.3627C= (p.Phe1209=)
c.3480C= (p.Phe1160=)
c.3249C= (p.Phe1083=)
c.2712C= (p.Phe904=)
c.3597C= (p.Phe1199=)
n.2390C=
c.3519C= (p.Phe1173=)
n.3582C=
c.*1072C= (n.*1072C=)
n.4333C=
c.*763C= (n.*763C=)
c.*1829C= (n.*1829C=)
n.4458C=
c.2655C= (p.Phe885=)
c.3414C= (p.Phe1138=)
c.*3119C= (n.*3119C=)
n.3265C=
c.*3197C= (n.*3197C=)
n.356C=
c.3504C= (p.Phe1168=)
c.3462C= (p.Phe1154=)
c.3726C= (p.Phe1242=)
c.3648C= (p.Phe1216=)
c.3615C= (p.Phe1205=)
c.3624C= (p.Phe1208=)
c.2634C= (p.Phe878=)
1g.154584890G>TCA342634610ADARc.3491C>A (n.3491C>A)
c.3627C>A (p.Phe1209Leu)
c.3480C>A (p.Phe1160Leu)
c.3249C>A (p.Phe1083Leu)
c.2712C>A (p.Phe904Leu)
c.3597C>A (p.Phe1199Leu)
n.2390C>A
c.3519C>A (p.Phe1173Leu)
n.3582C>A
c.*1072C>A (n.*1072C>A)
n.4333C>A
c.*763C>A (n.*763C>A)
c.*1829C>A (n.*1829C>A)
n.4458C>A
c.2655C>A (p.Phe885Leu)
c.3414C>A (p.Phe1138Leu)
c.*3119C>A (n.*3119C>A)
n.3265C>A
c.*3197C>A (n.*3197C>A)
n.356C>A
c.3504C>A (p.Phe1168Leu)
c.3462C>A (p.Phe1154Leu)
c.3726C>A (p.Phe1242Leu)
c.3648C>A (p.Phe1216Leu)
c.3615C>A (p.Phe1205Leu)
c.3624C>A (p.Phe1208Leu)
c.2634C>A (p.Phe878Leu)
1g.154584891A>CCA342634611ADARc.3490T>G (n.3490T>G)
c.3626T>G (p.Phe1209Cys)
c.3479T>G (p.Phe1160Cys)
c.3248T>G (p.Phe1083Cys)
c.2711T>G (p.Phe904Cys)
c.3596T>G (p.Phe1199Cys)
n.2389T>G
c.3518T>G (p.Phe1173Cys)
n.3581T>G
c.*1071T>G (n.*1071T>G)
n.4332T>G
c.*762T>G (n.*762T>G)
c.*1828T>G (n.*1828T>G)
n.4457T>G
c.2654T>G (p.Phe885Cys)
c.3413T>G (p.Phe1138Cys)
c.*3118T>G (n.*3118T>G)
n.3264T>G
c.*3196T>G (n.*3196T>G)
n.355T>G
c.3503T>G (p.Phe1168Cys)
c.3461T>G (p.Phe1154Cys)
c.3725T>G (p.Phe1242Cys)
c.3647T>G (p.Phe1216Cys)
c.3614T>G (p.Phe1205Cys)
c.3623T>G (p.Phe1208Cys)
c.2633T>G (p.Phe878Cys)
1g.154584891A>GCA342634612ADARc.3490T>C (n.3490T>C)
c.3626T>C (p.Phe1209Ser)
c.3479T>C (p.Phe1160Ser)
c.3248T>C (p.Phe1083Ser)
c.2711T>C (p.Phe904Ser)
c.3596T>C (p.Phe1199Ser)
n.2389T>C
c.3518T>C (p.Phe1173Ser)
n.3581T>C
c.*1071T>C (n.*1071T>C)
n.4332T>C
c.*762T>C (n.*762T>C)
c.*1828T>C (n.*1828T>C)
n.4457T>C
c.2654T>C (p.Phe885Ser)
c.3413T>C (p.Phe1138Ser)
c.*3118T>C (n.*3118T>C)
n.3264T>C
c.*3196T>C (n.*3196T>C)
n.355T>C
c.3503T>C (p.Phe1168Ser)
c.3461T>C (p.Phe1154Ser)
c.3725T>C (p.Phe1242Ser)
c.3647T>C (p.Phe1216Ser)
c.3614T>C (p.Phe1205Ser)
c.3623T>C (p.Phe1208Ser)
c.2633T>C (p.Phe878Ser)
1g.154584891A>TCA342634613ADARc.3490T>A (n.3490T>A)
c.3626T>A (p.Phe1209Tyr)
c.3479T>A (p.Phe1160Tyr)
c.3248T>A (p.Phe1083Tyr)
c.2711T>A (p.Phe904Tyr)
c.3596T>A (p.Phe1199Tyr)
n.2389T>A
c.3518T>A (p.Phe1173Tyr)
n.3581T>A
c.*1071T>A (n.*1071T>A)
n.4332T>A
c.*762T>A (n.*762T>A)
c.*1828T>A (n.*1828T>A)
n.4457T>A
c.2654T>A (p.Phe885Tyr)
c.3413T>A (p.Phe1138Tyr)
c.*3118T>A (n.*3118T>A)
n.3264T>A
c.*3196T>A (n.*3196T>A)
n.355T>A
c.3503T>A (p.Phe1168Tyr)
c.3461T>A (p.Phe1154Tyr)
c.3725T>A (p.Phe1242Tyr)
c.3647T>A (p.Phe1216Tyr)
c.3614T>A (p.Phe1205Tyr)
c.3623T>A (p.Phe1208Tyr)
c.2633T>A (p.Phe878Tyr)
1g.154584892A>CCA342634616ADARc.3489T>G (n.3489T>G)
c.3625T>G (p.Phe1209Val)
c.3478T>G (p.Phe1160Val)
c.3247T>G (p.Phe1083Val)
c.2710T>G (p.Phe904Val)
c.3595T>G (p.Phe1199Val)
n.2388T>G
c.3517T>G (p.Phe1173Val)
n.3580T>G
c.*1070T>G (n.*1070T>G)
n.4331T>G
c.*761T>G (n.*761T>G)
c.*1827T>G (n.*1827T>G)
n.4456T>G
c.2653T>G (p.Phe885Val)
c.3412T>G (p.Phe1138Val)
c.*3117T>G (n.*3117T>G)
n.3263T>G
c.*3195T>G (n.*3195T>G)
n.354T>G
c.3502T>G (p.Phe1168Val)
c.3460T>G (p.Phe1154Val)
c.3724T>G (p.Phe1242Val)
c.3646T>G (p.Phe1216Val)
c.3613T>G (p.Phe1205Val)
c.3622T>G (p.Phe1208Val)
c.2632T>G (p.Phe878Val)
1g.154584892A>GCA342634614ADARc.3489T>C (n.3489T>C)
c.3625T>C (p.Phe1209Leu)
c.3478T>C (p.Phe1160Leu)
c.3247T>C (p.Phe1083Leu)
c.2710T>C (p.Phe904Leu)
c.3595T>C (p.Phe1199Leu)
n.2388T>C
c.3517T>C (p.Phe1173Leu)
n.3580T>C
c.*1070T>C (n.*1070T>C)
n.4331T>C
c.*761T>C (n.*761T>C)
c.*1827T>C (n.*1827T>C)
n.4456T>C
c.2653T>C (p.Phe885Leu)
c.3412T>C (p.Phe1138Leu)
c.*3117T>C (n.*3117T>C)
n.3263T>C
c.*3195T>C (n.*3195T>C)
n.354T>C
c.3502T>C (p.Phe1168Leu)
c.3460T>C (p.Phe1154Leu)
c.3724T>C (p.Phe1242Leu)
c.3646T>C (p.Phe1216Leu)
c.3613T>C (p.Phe1205Leu)
c.3622T>C (p.Phe1208Leu)
c.2632T>C (p.Phe878Leu)
1g.154584892A>TCA342634615ADARc.3489T>A (n.3489T>A)
c.3625T>A (p.Phe1209Ile)
c.3478T>A (p.Phe1160Ile)
c.3247T>A (p.Phe1083Ile)
c.2710T>A (p.Phe904Ile)
c.3595T>A (p.Phe1199Ile)
n.2388T>A
c.3517T>A (p.Phe1173Ile)
n.3580T>A
c.*1070T>A (n.*1070T>A)
n.4331T>A
c.*761T>A (n.*761T>A)
c.*1827T>A (n.*1827T>A)
n.4456T>A
c.2653T>A (p.Phe885Ile)
c.3412T>A (p.Phe1138Ile)
c.*3117T>A (n.*3117T>A)
n.3263T>A
c.*3195T>A (n.*3195T>A)
n.354T>A
c.3502T>A (p.Phe1168Ile)
c.3460T>A (p.Phe1154Ile)
c.3724T>A (p.Phe1242Ile)
c.3646T>A (p.Phe1216Ile)
c.3613T>A (p.Phe1205Ile)
c.3622T>A (p.Phe1208Ile)
c.2632T>A (p.Phe878Ile)
1g.154584893G>ACA421231423ADARc.3488C>T (n.3488C>T)
c.3624C>T (p.Tyr1208=)
c.3477C>T (p.Tyr1159=)
c.3246C>T (p.Tyr1082=)
c.2709C>T (p.Tyr903=)
c.3594C>T (p.Tyr1198=)
n.2387C>T
c.3516C>T (p.Tyr1172=)
n.3579C>T
c.*1069C>T (n.*1069C>T)
n.4330C>T
c.*760C>T (n.*760C>T)
c.*1826C>T (n.*1826C>T)
n.4455C>T
c.2652C>T (p.Tyr884=)
c.3411C>T (p.Tyr1137=)
c.*3116C>T (n.*3116C>T)
n.3262C>T
c.*3194C>T (n.*3194C>T)
n.353C>T
c.3501C>T (p.Tyr1167=)
c.3459C>T (p.Tyr1153=)
c.3723C>T (p.Tyr1241=)
c.3645C>T (p.Tyr1215=)
c.3612C>T (p.Tyr1204=)
c.3621C>T (p.Tyr1207=)
c.2631C>T (p.Tyr877=)
 dbSNP
1g.154584893G>CCA342634617ADARc.3488C>G (n.3488C>G)
c.3624C>G (p.Tyr1208Ter)
c.3477C>G (p.Tyr1159Ter)
c.3246C>G (p.Tyr1082Ter)
c.2709C>G (p.Tyr903Ter)
c.3594C>G (p.Tyr1198Ter)
n.2387C>G
c.3516C>G (p.Tyr1172Ter)
n.3579C>G
c.*1069C>G (n.*1069C>G)
n.4330C>G
c.*760C>G (n.*760C>G)
c.*1826C>G (n.*1826C>G)
n.4455C>G
c.2652C>G (p.Tyr884Ter)
c.3411C>G (p.Tyr1137Ter)
c.*3116C>G (n.*3116C>G)
n.3262C>G
c.*3194C>G (n.*3194C>G)
n.353C>G
c.3501C>G (p.Tyr1167Ter)
c.3459C>G (p.Tyr1153Ter)
c.3723C>G (p.Tyr1241Ter)
c.3645C>G (p.Tyr1215Ter)
c.3612C>G (p.Tyr1204Ter)
c.3621C>G (p.Tyr1207Ter)
c.2631C>G (p.Tyr877Ter)
1g.154584893G=CA2480931194ADARc.3488C= (n.3488C=)
c.3624C= (p.Tyr1208=)
c.3477C= (p.Tyr1159=)
c.3246C= (p.Tyr1082=)
c.2709C= (p.Tyr903=)
c.3594C= (p.Tyr1198=)
n.2387C=
c.3516C= (p.Tyr1172=)
n.3579C=
c.*1069C= (n.*1069C=)
n.4330C=
c.*760C= (n.*760C=)
c.*1826C= (n.*1826C=)
n.4455C=
c.2652C= (p.Tyr884=)
c.3411C= (p.Tyr1137=)
c.*3116C= (n.*3116C=)
n.3262C=
c.*3194C= (n.*3194C=)
n.353C=
c.3501C= (p.Tyr1167=)
c.3459C= (p.Tyr1153=)
c.3723C= (p.Tyr1241=)
c.3645C= (p.Tyr1215=)
c.3612C= (p.Tyr1204=)
c.3621C= (p.Tyr1207=)
c.2631C= (p.Tyr877=)
1g.154584893G>TCA342634618ADARc.3488C>A (n.3488C>A)
c.3624C>A (p.Tyr1208Ter)
c.3477C>A (p.Tyr1159Ter)
c.3246C>A (p.Tyr1082Ter)
c.2709C>A (p.Tyr903Ter)
c.3594C>A (p.Tyr1198Ter)
n.2387C>A
c.3516C>A (p.Tyr1172Ter)
n.3579C>A
c.*1069C>A (n.*1069C>A)
n.4330C>A
c.*760C>A (n.*760C>A)
c.*1826C>A (n.*1826C>A)
n.4455C>A
c.2652C>A (p.Tyr884Ter)
c.3411C>A (p.Tyr1137Ter)
c.*3116C>A (n.*3116C>A)
n.3262C>A
c.*3194C>A (n.*3194C>A)
n.353C>A
c.3501C>A (p.Tyr1167Ter)
c.3459C>A (p.Tyr1153Ter)
c.3723C>A (p.Tyr1241Ter)
c.3645C>A (p.Tyr1215Ter)
c.3612C>A (p.Tyr1204Ter)
c.3621C>A (p.Tyr1207Ter)
c.2631C>A (p.Tyr877Ter)
 gnomAD v4
1g.154584894T>ACA342634619ADARc.3487A>T (n.3487A>T)
c.3623A>T (p.Tyr1208Phe)
c.3476A>T (p.Tyr1159Phe)
c.3245A>T (p.Tyr1082Phe)
c.2708A>T (p.Tyr903Phe)
c.3593A>T (p.Tyr1198Phe)
n.2386A>T
c.3515A>T (p.Tyr1172Phe)
n.3578A>T
c.*1068A>T (n.*1068A>T)
n.4329A>T
c.*759A>T (n.*759A>T)
c.*1825A>T (n.*1825A>T)
n.4454A>T
c.2651A>T (p.Tyr884Phe)
c.3410A>T (p.Tyr1137Phe)
c.*3115A>T (n.*3115A>T)
n.3261A>T
c.*3193A>T (n.*3193A>T)
n.352A>T
c.3500A>T (p.Tyr1167Phe)
c.3458A>T (p.Tyr1153Phe)
c.3722A>T (p.Tyr1241Phe)
c.3644A>T (p.Tyr1215Phe)
c.3611A>T (p.Tyr1204Phe)
c.3620A>T (p.Tyr1207Phe)
c.2630A>T (p.Tyr877Phe)
1g.154584894T>CCA342634620ADARc.3487A>G (n.3487A>G)
c.3623A>G (p.Tyr1208Cys)
c.3476A>G (p.Tyr1159Cys)
c.3245A>G (p.Tyr1082Cys)
c.2708A>G (p.Tyr903Cys)
c.3593A>G (p.Tyr1198Cys)
n.2386A>G
c.3515A>G (p.Tyr1172Cys)
n.3578A>G
c.*1068A>G (n.*1068A>G)
n.4329A>G
c.*759A>G (n.*759A>G)
c.*1825A>G (n.*1825A>G)
n.4454A>G
c.2651A>G (p.Tyr884Cys)
c.3410A>G (p.Tyr1137Cys)
c.*3115A>G (n.*3115A>G)
n.3261A>G
c.*3193A>G (n.*3193A>G)
n.352A>G
c.3500A>G (p.Tyr1167Cys)
c.3458A>G (p.Tyr1153Cys)
c.3722A>G (p.Tyr1241Cys)
c.3644A>G (p.Tyr1215Cys)
c.3611A>G (p.Tyr1204Cys)
c.3620A>G (p.Tyr1207Cys)
c.2630A>G (p.Tyr877Cys)
1g.154584894T>GCA342634621ADARc.3487A>C (n.3487A>C)
c.3623A>C (p.Tyr1208Ser)
c.3476A>C (p.Tyr1159Ser)
c.3245A>C (p.Tyr1082Ser)
c.2708A>C (p.Tyr903Ser)
c.3593A>C (p.Tyr1198Ser)
n.2386A>C
c.3515A>C (p.Tyr1172Ser)
n.3578A>C
c.*1068A>C (n.*1068A>C)
n.4329A>C
c.*759A>C (n.*759A>C)
c.*1825A>C (n.*1825A>C)
n.4454A>C
c.2651A>C (p.Tyr884Ser)
c.3410A>C (p.Tyr1137Ser)
c.*3115A>C (n.*3115A>C)
n.3261A>C
c.*3193A>C (n.*3193A>C)
n.352A>C
c.3500A>C (p.Tyr1167Ser)
c.3458A>C (p.Tyr1153Ser)
c.3722A>C (p.Tyr1241Ser)
c.3644A>C (p.Tyr1215Ser)
c.3611A>C (p.Tyr1204Ser)
c.3620A>C (p.Tyr1207Ser)
c.2630A>C (p.Tyr877Ser)
1g.154584895A>CCA342634622ADARc.3486T>G (n.3486T>G)
c.3622T>G (p.Tyr1208Asp)
c.3475T>G (p.Tyr1159Asp)
c.3244T>G (p.Tyr1082Asp)
c.2707T>G (p.Tyr903Asp)
c.3592T>G (p.Tyr1198Asp)
n.2385T>G
c.3514T>G (p.Tyr1172Asp)
n.3577T>G
c.*1067T>G (n.*1067T>G)
n.4328T>G
c.*758T>G (n.*758T>G)
c.*1824T>G (n.*1824T>G)
n.4453T>G
c.2650T>G (p.Tyr884Asp)
c.3409T>G (p.Tyr1137Asp)
c.*3114T>G (n.*3114T>G)
n.3260T>G
c.*3192T>G (n.*3192T>G)
n.351T>G
c.3499T>G (p.Tyr1167Asp)
c.3457T>G (p.Tyr1153Asp)
c.3721T>G (p.Tyr1241Asp)
c.3643T>G (p.Tyr1215Asp)
c.3610T>G (p.Tyr1204Asp)
c.3619T>G (p.Tyr1207Asp)
c.2629T>G (p.Tyr877Asp)
1g.154584895A>GCA342634624ADARc.3486T>C (n.3486T>C)
c.3622T>C (p.Tyr1208His)
c.3475T>C (p.Tyr1159His)
c.3244T>C (p.Tyr1082His)
c.2707T>C (p.Tyr903His)
c.3592T>C (p.Tyr1198His)
n.2385T>C
c.3514T>C (p.Tyr1172His)
n.3577T>C
c.*1067T>C (n.*1067T>C)
n.4328T>C
c.*758T>C (n.*758T>C)
c.*1824T>C (n.*1824T>C)
n.4453T>C
c.2650T>C (p.Tyr884His)
c.3409T>C (p.Tyr1137His)
c.*3114T>C (n.*3114T>C)
n.3260T>C
c.*3192T>C (n.*3192T>C)
n.351T>C
c.3499T>C (p.Tyr1167His)
c.3457T>C (p.Tyr1153His)
c.3721T>C (p.Tyr1241His)
c.3643T>C (p.Tyr1215His)
c.3610T>C (p.Tyr1204His)
c.3619T>C (p.Tyr1207His)
c.2629T>C (p.Tyr877His)
1g.154584895A>TCA342634623ADARc.3486T>A (n.3486T>A)
c.3622T>A (p.Tyr1208Asn)
c.3475T>A (p.Tyr1159Asn)
c.3244T>A (p.Tyr1082Asn)
c.2707T>A (p.Tyr903Asn)
c.3592T>A (p.Tyr1198Asn)
n.2385T>A
c.3514T>A (p.Tyr1172Asn)
n.3577T>A
c.*1067T>A (n.*1067T>A)
n.4328T>A
c.*758T>A (n.*758T>A)
c.*1824T>A (n.*1824T>A)
n.4453T>A
c.2650T>A (p.Tyr884Asn)
c.3409T>A (p.Tyr1137Asn)
c.*3114T>A (n.*3114T>A)
n.3260T>A
c.*3192T>A (n.*3192T>A)
n.351T>A
c.3499T>A (p.Tyr1167Asn)
c.3457T>A (p.Tyr1153Asn)
c.3721T>A (p.Tyr1241Asn)
c.3643T>A (p.Tyr1215Asn)
c.3610T>A (p.Tyr1204Asn)
c.3619T>A (p.Tyr1207Asn)
c.2629T>A (p.Tyr877Asn)
1g.154584896G>ACA421231428ADARc.3485C>T (n.3485C>T)
c.3621C>T (p.Asn1207=)
c.3474C>T (p.Asn1158=)
c.3243C>T (p.Asn1081=)
c.2706C>T (p.Asn902=)
c.3591C>T (p.Asn1197=)
n.2384C>T
c.3513C>T (p.Asn1171=)
n.3576C>T
c.*1066C>T (n.*1066C>T)
n.4327C>T
c.*757C>T (n.*757C>T)
c.*1823C>T (n.*1823C>T)
n.4452C>T
c.2649C>T (p.Asn883=)
c.3408C>T (p.Asn1136=)
c.*3113C>T (n.*3113C>T)
n.3259C>T
c.*3191C>T (n.*3191C>T)
n.350C>T
c.3498C>T (p.Asn1166=)
c.3456C>T (p.Asn1152=)
c.3720C>T (p.Asn1240=)
c.3642C>T (p.Asn1214=)
c.3609C>T (p.Asn1203=)
c.3618C>T (p.Asn1206=)
c.2628C>T (p.Asn876=)
1g.154584896G>CCA342634625ADARc.3485C>G (n.3485C>G)
c.3621C>G (p.Asn1207Lys)
c.3474C>G (p.Asn1158Lys)
c.3243C>G (p.Asn1081Lys)
c.2706C>G (p.Asn902Lys)
c.3591C>G (p.Asn1197Lys)
n.2384C>G
c.3513C>G (p.Asn1171Lys)
n.3576C>G
c.*1066C>G (n.*1066C>G)
n.4327C>G
c.*757C>G (n.*757C>G)
c.*1823C>G (n.*1823C>G)
n.4452C>G
c.2649C>G (p.Asn883Lys)
c.3408C>G (p.Asn1136Lys)
c.*3113C>G (n.*3113C>G)
n.3259C>G
c.*3191C>G (n.*3191C>G)
n.350C>G
c.3498C>G (p.Asn1166Lys)
c.3456C>G (p.Asn1152Lys)
c.3720C>G (p.Asn1240Lys)
c.3642C>G (p.Asn1214Lys)
c.3609C>G (p.Asn1203Lys)
c.3618C>G (p.Asn1206Lys)
c.2628C>G (p.Asn876Lys)
1g.154584896G>TCA342634626ADARc.3485C>A (n.3485C>A)
c.3621C>A (p.Asn1207Lys)
c.3474C>A (p.Asn1158Lys)
c.3243C>A (p.Asn1081Lys)
c.2706C>A (p.Asn902Lys)
c.3591C>A (p.Asn1197Lys)
n.2384C>A
c.3513C>A (p.Asn1171Lys)
n.3576C>A
c.*1066C>A (n.*1066C>A)
n.4327C>A
c.*757C>A (n.*757C>A)
c.*1823C>A (n.*1823C>A)
n.4452C>A
c.2649C>A (p.Asn883Lys)
c.3408C>A (p.Asn1136Lys)
c.*3113C>A (n.*3113C>A)
n.3259C>A
c.*3191C>A (n.*3191C>A)
n.350C>A
c.3498C>A (p.Asn1166Lys)
c.3456C>A (p.Asn1152Lys)
c.3720C>A (p.Asn1240Lys)
c.3642C>A (p.Asn1214Lys)
c.3609C>A (p.Asn1203Lys)
c.3618C>A (p.Asn1206Lys)
c.2628C>A (p.Asn876Lys)
1g.154584897T>ACA342634627ADARc.3484A>T (n.3484A>T)
c.3620A>T (p.Asn1207Ile)
c.3473A>T (p.Asn1158Ile)
c.3242A>T (p.Asn1081Ile)
c.2705A>T (p.Asn902Ile)
c.3590A>T (p.Asn1197Ile)
n.2383A>T
c.3512A>T (p.Asn1171Ile)
n.3575A>T
c.*1065A>T (n.*1065A>T)
n.4326A>T
c.*756A>T (n.*756A>T)
c.*1822A>T (n.*1822A>T)
n.4451A>T
c.2648A>T (p.Asn883Ile)
c.3407A>T (p.Asn1136Ile)
c.*3112A>T (n.*3112A>T)
n.3258A>T
c.*3190A>T (n.*3190A>T)
n.349A>T
c.3497A>T (p.Asn1166Ile)
c.3455A>T (p.Asn1152Ile)
c.3719A>T (p.Asn1240Ile)
c.3641A>T (p.Asn1214Ile)
c.3608A>T (p.Asn1203Ile)
c.3617A>T (p.Asn1206Ile)
c.2627A>T (p.Asn876Ile)
1g.154584897T>CCA342634629ADARc.3484A>G (n.3484A>G)
c.3620A>G (p.Asn1207Ser)
c.3473A>G (p.Asn1158Ser)
c.3242A>G (p.Asn1081Ser)
c.2705A>G (p.Asn902Ser)
c.3590A>G (p.Asn1197Ser)
n.2383A>G
c.3512A>G (p.Asn1171Ser)
n.3575A>G
c.*1065A>G (n.*1065A>G)
n.4326A>G
c.*756A>G (n.*756A>G)
c.*1822A>G (n.*1822A>G)
n.4451A>G
c.2648A>G (p.Asn883Ser)
c.3407A>G (p.Asn1136Ser)
c.*3112A>G (n.*3112A>G)
n.3258A>G
c.*3190A>G (n.*3190A>G)
n.349A>G
c.3497A>G (p.Asn1166Ser)
c.3455A>G (p.Asn1152Ser)
c.3719A>G (p.Asn1240Ser)
c.3641A>G (p.Asn1214Ser)
c.3608A>G (p.Asn1203Ser)
c.3617A>G (p.Asn1206Ser)
c.2627A>G (p.Asn876Ser)
1g.154584897T>GCA342634628ADARc.3484A>C (n.3484A>C)
c.3620A>C (p.Asn1207Thr)
c.3473A>C (p.Asn1158Thr)
c.3242A>C (p.Asn1081Thr)
c.2705A>C (p.Asn902Thr)
c.3590A>C (p.Asn1197Thr)
n.2383A>C
c.3512A>C (p.Asn1171Thr)
n.3575A>C
c.*1065A>C (n.*1065A>C)
n.4326A>C
c.*756A>C (n.*756A>C)
c.*1822A>C (n.*1822A>C)
n.4451A>C
c.2648A>C (p.Asn883Thr)
c.3407A>C (p.Asn1136Thr)
c.*3112A>C (n.*3112A>C)
n.3258A>C
c.*3190A>C (n.*3190A>C)
n.349A>C
c.3497A>C (p.Asn1166Thr)
c.3455A>C (p.Asn1152Thr)
c.3719A>C (p.Asn1240Thr)
c.3641A>C (p.Asn1214Thr)
c.3608A>C (p.Asn1203Thr)
c.3617A>C (p.Asn1206Thr)
c.2627A>C (p.Asn876Thr)
1g.154584898T>ACA342634630ADARc.3483A>T (n.3483A>T)
c.3619A>T (p.Asn1207Tyr)
c.3472A>T (p.Asn1158Tyr)
c.3241A>T (p.Asn1081Tyr)
c.2704A>T (p.Asn902Tyr)
c.3589A>T (p.Asn1197Tyr)
n.2382A>T
c.3511A>T (p.Asn1171Tyr)
n.3574A>T
c.*1064A>T (n.*1064A>T)
n.4325A>T
c.*755A>T (n.*755A>T)
c.*1821A>T (n.*1821A>T)
n.4450A>T
c.2647A>T (p.Asn883Tyr)
c.3406A>T (p.Asn1136Tyr)
c.*3111A>T (n.*3111A>T)
n.3257A>T
c.*3189A>T (n.*3189A>T)
n.348A>T
c.3496A>T (p.Asn1166Tyr)
c.3454A>T (p.Asn1152Tyr)
c.3718A>T (p.Asn1240Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3607A>T (p.Asn1203Tyr)
c.3616A>T (p.Asn1206Tyr)
c.2626A>T (p.Asn876Tyr)
1g.154584898T>CCA342634632ADARc.3483A>G (n.3483A>G)
c.3619A>G (p.Asn1207Asp)
c.3472A>G (p.Asn1158Asp)
c.3241A>G (p.Asn1081Asp)
c.2704A>G (p.Asn902Asp)
c.3589A>G (p.Asn1197Asp)
n.2382A>G
c.3511A>G (p.Asn1171Asp)
n.3574A>G
c.*1064A>G (n.*1064A>G)
n.4325A>G
c.*755A>G (n.*755A>G)
c.*1821A>G (n.*1821A>G)
n.4450A>G
c.2647A>G (p.Asn883Asp)
c.3406A>G (p.Asn1136Asp)
c.*3111A>G (n.*3111A>G)
n.3257A>G
c.*3189A>G (n.*3189A>G)
n.348A>G
c.3496A>G (p.Asn1166Asp)
c.3454A>G (p.Asn1152Asp)
c.3718A>G (p.Asn1240Asp)
c.3640A>G (p.Asn1214Asp)
c.3607A>G (p.Asn1203Asp)
c.3616A>G (p.Asn1206Asp)
c.2626A>G (p.Asn876Asp)
 gnomAD v4
1g.154584898T>GCA342634631ADARc.3483A>C (n.3483A>C)
c.3619A>C (p.Asn1207His)
c.3472A>C (p.Asn1158His)
c.3241A>C (p.Asn1081His)
c.2704A>C (p.Asn902His)
c.3589A>C (p.Asn1197His)
n.2382A>C
c.3511A>C (p.Asn1171His)
n.3574A>C
c.*1064A>C (n.*1064A>C)
n.4325A>C
c.*755A>C (n.*755A>C)
c.*1821A>C (n.*1821A>C)
n.4450A>C
c.2647A>C (p.Asn883His)
c.3406A>C (p.Asn1136His)
c.*3111A>C (n.*3111A>C)
n.3257A>C
c.*3189A>C (n.*3189A>C)
n.348A>C
c.3496A>C (p.Asn1166His)
c.3454A>C (p.Asn1152His)
c.3718A>C (p.Asn1240His)
c.3640A>C (p.Asn1214His)
c.3607A>C (p.Asn1203His)
c.3616A>C (p.Asn1206His)
c.2626A>C (p.Asn876His)
 gnomAD v4
1g.154584899C>ACA342634633ADARc.3482G>T (n.3482G>T)
c.3618G>T (p.Lys1206Asn)
c.3471G>T (p.Lys1157Asn)
c.3240G>T (p.Lys1080Asn)
c.2703G>T (p.Lys901Asn)
c.3588G>T (p.Lys1196Asn)
n.2381G>T
c.3510G>T (p.Lys1170Asn)
n.3573G>T
c.*1063G>T (n.*1063G>T)
n.4324G>T
c.*754G>T (n.*754G>T)
c.*1820G>T (n.*1820G>T)
n.4449G>T
c.2646G>T (p.Lys882Asn)
c.3405G>T (p.Lys1135Asn)
c.*3110G>T (n.*3110G>T)
n.3256G>T
c.*3188G>T (n.*3188G>T)
n.347G>T
c.3495G>T (p.Lys1165Asn)
c.3453G>T (p.Lys1151Asn)
c.3717G>T (p.Lys1239Asn)
c.3639G>T (p.Lys1213Asn)
c.3606G>T (p.Lys1202Asn)
c.3615G>T (p.Lys1205Asn)
c.2625G>T (p.Lys875Asn)
1g.154584899C>GCA342634634ADARc.3482G>C (n.3482G>C)
c.3618G>C (p.Lys1206Asn)
c.3471G>C (p.Lys1157Asn)
c.3240G>C (p.Lys1080Asn)
c.2703G>C (p.Lys901Asn)
c.3588G>C (p.Lys1196Asn)
n.2381G>C
c.3510G>C (p.Lys1170Asn)
n.3573G>C
c.*1063G>C (n.*1063G>C)
n.4324G>C
c.*754G>C (n.*754G>C)
c.*1820G>C (n.*1820G>C)
n.4449G>C
c.2646G>C (p.Lys882Asn)
c.3405G>C (p.Lys1135Asn)
c.*3110G>C (n.*3110G>C)
n.3256G>C
c.*3188G>C (n.*3188G>C)
n.347G>C
c.3495G>C (p.Lys1165Asn)
c.3453G>C (p.Lys1151Asn)
c.3717G>C (p.Lys1239Asn)
c.3639G>C (p.Lys1213Asn)
c.3606G>C (p.Lys1202Asn)
c.3615G>C (p.Lys1205Asn)
c.2625G>C (p.Lys875Asn)
1g.154584899C>TCA421231435ADARc.3482G>A (n.3482G>A)
c.3618G>A (p.Lys1206=)
c.3471G>A (p.Lys1157=)
c.3240G>A (p.Lys1080=)
c.2703G>A (p.Lys901=)
c.3588G>A (p.Lys1196=)
n.2381G>A
c.3510G>A (p.Lys1170=)
n.3573G>A
c.*1063G>A (n.*1063G>A)
n.4324G>A
c.*754G>A (n.*754G>A)
c.*1820G>A (n.*1820G>A)
n.4449G>A
c.2646G>A (p.Lys882=)
c.3405G>A (p.Lys1135=)
c.*3110G>A (n.*3110G>A)
n.3256G>A
c.*3188G>A (n.*3188G>A)
n.347G>A
c.3495G>A (p.Lys1165=)
c.3453G>A (p.Lys1151=)
c.3717G>A (p.Lys1239=)
c.3639G>A (p.Lys1213=)
c.3606G>A (p.Lys1202=)
c.3615G>A (p.Lys1205=)
c.2625G>A (p.Lys875=)
 gnomAD v4
1g.154584900T>ACA342634635ADARc.3481A>T (n.3481A>T)
c.3617A>T (p.Lys1206Met)
c.3470A>T (p.Lys1157Met)
c.3239A>T (p.Lys1080Met)
c.2702A>T (p.Lys901Met)
c.3587A>T (p.Lys1196Met)
n.2380A>T
c.3509A>T (p.Lys1170Met)
n.3572A>T
c.*1062A>T (n.*1062A>T)
n.4323A>T
c.*753A>T (n.*753A>T)
c.*1819A>T (n.*1819A>T)
n.4448A>T
c.2645A>T (p.Lys882Met)
c.3404A>T (p.Lys1135Met)
c.*3109A>T (n.*3109A>T)
n.3255A>T
c.*3187A>T (n.*3187A>T)
n.346A>T
c.3494A>T (p.Lys1165Met)
c.3452A>T (p.Lys1151Met)
c.3716A>T (p.Lys1239Met)
c.3638A>T (p.Lys1213Met)
c.3605A>T (p.Lys1202Met)
c.3614A>T (p.Lys1205Met)
c.2624A>T (p.Lys875Met)
1g.154584900T>CCA342634637ADARc.3481A>G (n.3481A>G)
c.3617A>G (p.Lys1206Arg)
c.3470A>G (p.Lys1157Arg)
c.3239A>G (p.Lys1080Arg)
c.2702A>G (p.Lys901Arg)
c.3587A>G (p.Lys1196Arg)
n.2380A>G
c.3509A>G (p.Lys1170Arg)
n.3572A>G
c.*1062A>G (n.*1062A>G)
n.4323A>G
c.*753A>G (n.*753A>G)
c.*1819A>G (n.*1819A>G)
n.4448A>G
c.2645A>G (p.Lys882Arg)
c.3404A>G (p.Lys1135Arg)
c.*3109A>G (n.*3109A>G)
n.3255A>G
c.*3187A>G (n.*3187A>G)
n.346A>G
c.3494A>G (p.Lys1165Arg)
c.3452A>G (p.Lys1151Arg)
c.3716A>G (p.Lys1239Arg)
c.3638A>G (p.Lys1213Arg)
c.3605A>G (p.Lys1202Arg)
c.3614A>G (p.Lys1205Arg)
c.2624A>G (p.Lys875Arg)
1g.154584900T>GCA342634636ADARc.3481A>C (n.3481A>C)
c.3617A>C (p.Lys1206Thr)
c.3470A>C (p.Lys1157Thr)
c.3239A>C (p.Lys1080Thr)
c.2702A>C (p.Lys901Thr)
c.3587A>C (p.Lys1196Thr)
n.2380A>C
c.3509A>C (p.Lys1170Thr)
n.3572A>C
c.*1062A>C (n.*1062A>C)
n.4323A>C
c.*753A>C (n.*753A>C)
c.*1819A>C (n.*1819A>C)
n.4448A>C
c.2645A>C (p.Lys882Thr)
c.3404A>C (p.Lys1135Thr)
c.*3109A>C (n.*3109A>C)
n.3255A>C
c.*3187A>C (n.*3187A>C)
n.346A>C
c.3494A>C (p.Lys1165Thr)
c.3452A>C (p.Lys1151Thr)
c.3716A>C (p.Lys1239Thr)
c.3638A>C (p.Lys1213Thr)
c.3605A>C (p.Lys1202Thr)
c.3614A>C (p.Lys1205Thr)
c.2624A>C (p.Lys875Thr)
1g.154584901T>ACA342634638ADARc.3480A>T (n.3480A>T)
c.3616A>T (p.Lys1206Ter)
c.3469A>T (p.Lys1157Ter)
c.3238A>T (p.Lys1080Ter)
c.2701A>T (p.Lys901Ter)
c.3586A>T (p.Lys1196Ter)
n.2379A>T
c.3508A>T (p.Lys1170Ter)
n.3571A>T
c.*1061A>T (n.*1061A>T)
n.4322A>T
c.*752A>T (n.*752A>T)
c.*1818A>T (n.*1818A>T)
n.4447A>T
c.2644A>T (p.Lys882Ter)
c.3403A>T (p.Lys1135Ter)
c.*3108A>T (n.*3108A>T)
n.3254A>T
c.*3186A>T (n.*3186A>T)
n.345A>T
c.3493A>T (p.Lys1165Ter)
c.3451A>T (p.Lys1151Ter)
c.3715A>T (p.Lys1239Ter)
c.3637A>T (p.Lys1213Ter)
c.3604A>T (p.Lys1202Ter)
c.3613A>T (p.Lys1205Ter)
c.2623A>T (p.Lys875Ter)
1g.154584901T>CCA342634640ADARc.3480A>G (n.3480A>G)
c.3616A>G (p.Lys1206Glu)
c.3469A>G (p.Lys1157Glu)
c.3238A>G (p.Lys1080Glu)
c.2701A>G (p.Lys901Glu)
c.3586A>G (p.Lys1196Glu)
n.2379A>G
c.3508A>G (p.Lys1170Glu)
n.3571A>G
c.*1061A>G (n.*1061A>G)
n.4322A>G
c.*752A>G (n.*752A>G)
c.*1818A>G (n.*1818A>G)
n.4447A>G
c.2644A>G (p.Lys882Glu)
c.3403A>G (p.Lys1135Glu)
c.*3108A>G (n.*3108A>G)
n.3254A>G
c.*3186A>G (n.*3186A>G)
n.345A>G
c.3493A>G (p.Lys1165Glu)
c.3451A>G (p.Lys1151Glu)
c.3715A>G (p.Lys1239Glu)
c.3637A>G (p.Lys1213Glu)
c.3604A>G (p.Lys1202Glu)
c.3613A>G (p.Lys1205Glu)
c.2623A>G (p.Lys875Glu)
 gnomAD v4
1g.154584901T>GCA342634639ADARc.3480A>C (n.3480A>C)
c.3616A>C (p.Lys1206Gln)
c.3469A>C (p.Lys1157Gln)
c.3238A>C (p.Lys1080Gln)
c.2701A>C (p.Lys901Gln)
c.3586A>C (p.Lys1196Gln)
n.2379A>C
c.3508A>C (p.Lys1170Gln)
n.3571A>C
c.*1061A>C (n.*1061A>C)
n.4322A>C
c.*752A>C (n.*752A>C)
c.*1818A>C (n.*1818A>C)
n.4447A>C
c.2644A>C (p.Lys882Gln)
c.3403A>C (p.Lys1135Gln)
c.*3108A>C (n.*3108A>C)
n.3254A>C
c.*3186A>C (n.*3186A>C)
n.345A>C
c.3493A>C (p.Lys1165Gln)
c.3451A>C (p.Lys1151Gln)
c.3715A>C (p.Lys1239Gln)
c.3637A>C (p.Lys1213Gln)
c.3604A>C (p.Lys1202Gln)
c.3613A>C (p.Lys1205Gln)
c.2623A>C (p.Lys875Gln)
1g.154584902G>ACA421231437ADARc.3479C>T (n.3479C>T)
c.3615C>T (p.Ala1205=)
c.3468C>T (p.Ala1156=)
c.3237C>T (p.Ala1079=)
c.2700C>T (p.Ala900=)
c.3585C>T (p.Ala1195=)
n.2378C>T
c.3507C>T (p.Ala1169=)
n.3570C>T
c.*1060C>T (n.*1060C>T)
n.4321C>T
c.*751C>T (n.*751C>T)
c.*1817C>T (n.*1817C>T)
n.4446C>T
c.2643C>T (p.Ala881=)
c.3402C>T (p.Ala1134=)
c.*3107C>T (n.*3107C>T)
n.3253C>T
c.*3185C>T (n.*3185C>T)
n.344C>T
c.3492C>T (p.Ala1164=)
c.3450C>T (p.Ala1150=)
c.3714C>T (p.Ala1238=)
c.3636C>T (p.Ala1212=)
c.3603C>T (p.Ala1201=)
c.3612C>T (p.Ala1204=)
c.2622C>T (p.Ala874=)
1g.154584902G>CCA421231438ADARc.3479C>G (n.3479C>G)
c.3615C>G (p.Ala1205=)
c.3468C>G (p.Ala1156=)
c.3237C>G (p.Ala1079=)
c.2700C>G (p.Ala900=)
c.3585C>G (p.Ala1195=)
n.2378C>G
c.3507C>G (p.Ala1169=)
n.3570C>G
c.*1060C>G (n.*1060C>G)
n.4321C>G
c.*751C>G (n.*751C>G)
c.*1817C>G (n.*1817C>G)
n.4446C>G
c.2643C>G (p.Ala881=)
c.3402C>G (p.Ala1134=)
c.*3107C>G (n.*3107C>G)
n.3253C>G
c.*3185C>G (n.*3185C>G)
n.344C>G
c.3492C>G (p.Ala1164=)
c.3450C>G (p.Ala1150=)
c.3714C>G (p.Ala1238=)
c.3636C>G (p.Ala1212=)
c.3603C>G (p.Ala1201=)
c.3612C>G (p.Ala1204=)
c.2622C>G (p.Ala874=)
1g.154584902G>TCA421231439ADARc.3479C>A (n.3479C>A)
c.3615C>A (p.Ala1205=)
c.3468C>A (p.Ala1156=)
c.3237C>A (p.Ala1079=)
c.2700C>A (p.Ala900=)
c.3585C>A (p.Ala1195=)
n.2378C>A
c.3507C>A (p.Ala1169=)
n.3570C>A
c.*1060C>A (n.*1060C>A)
n.4321C>A
c.*751C>A (n.*751C>A)
c.*1817C>A (n.*1817C>A)
n.4446C>A
c.2643C>A (p.Ala881=)
c.3402C>A (p.Ala1134=)
c.*3107C>A (n.*3107C>A)
n.3253C>A
c.*3185C>A (n.*3185C>A)
n.344C>A
c.3492C>A (p.Ala1164=)
c.3450C>A (p.Ala1150=)
c.3714C>A (p.Ala1238=)
c.3636C>A (p.Ala1212=)
c.3603C>A (p.Ala1201=)
c.3612C>A (p.Ala1204=)
c.2622C>A (p.Ala874=)
1g.154584903G>ACA342634641ADARc.3478C>T (n.3478C>T)
c.3614C>T (p.Ala1205Val)
c.3467C>T (p.Ala1156Val)
c.3236C>T (p.Ala1079Val)
c.2699C>T (p.Ala900Val)
c.3584C>T (p.Ala1195Val)
n.2377C>T
c.3506C>T (p.Ala1169Val)
n.3569C>T
c.*1059C>T (n.*1059C>T)
n.4320C>T
c.*750C>T (n.*750C>T)
c.*1816C>T (n.*1816C>T)
n.4445C>T
c.2642C>T (p.Ala881Val)
c.3401C>T (p.Ala1134Val)
c.*3106C>T (n.*3106C>T)
n.3252C>T
c.*3184C>T (n.*3184C>T)
n.343C>T
c.3491C>T (p.Ala1164Val)
c.3449C>T (p.Ala1150Val)
c.3713C>T (p.Ala1238Val)
c.3635C>T (p.Ala1212Val)
c.3602C>T (p.Ala1201Val)
c.3611C>T (p.Ala1204Val)
c.2621C>T (p.Ala874Val)
1g.154584903G>CCA30848578ADARc.3478C>G (n.3478C>G)
c.3614C>G (p.Ala1205Gly)
c.3467C>G (p.Ala1156Gly)
c.3236C>G (p.Ala1079Gly)
c.2699C>G (p.Ala900Gly)
c.3584C>G (p.Ala1195Gly)
n.2377C>G
c.3506C>G (p.Ala1169Gly)
n.3569C>G
c.*1059C>G (n.*1059C>G)
n.4320C>G
c.*750C>G (n.*750C>G)
c.*1816C>G (n.*1816C>G)
n.4445C>G
c.2642C>G (p.Ala881Gly)
c.3401C>G (p.Ala1134Gly)
c.*3106C>G (n.*3106C>G)
n.3252C>G
c.*3184C>G (n.*3184C>G)
n.343C>G
c.3491C>G (p.Ala1164Gly)
c.3449C>G (p.Ala1150Gly)
c.3713C>G (p.Ala1238Gly)
c.3635C>G (p.Ala1212Gly)
c.3602C>G (p.Ala1201Gly)
c.3611C>G (p.Ala1204Gly)
c.2621C>G (p.Ala874Gly)
 ClinVar dbSNP
1g.154584903G=CA2480931195ADARc.3478C= (n.3478C=)
c.3614C= (p.Ala1205=)
c.3467C= (p.Ala1156=)
c.3236C= (p.Ala1079=)
c.2699C= (p.Ala900=)
c.3584C= (p.Ala1195=)
n.2377C=
c.3506C= (p.Ala1169=)
n.3569C=
c.*1059C= (n.*1059C=)
n.4320C=
c.*750C= (n.*750C=)
c.*1816C= (n.*1816C=)
n.4445C=
c.2642C= (p.Ala881=)
c.3401C= (p.Ala1134=)
c.*3106C= (n.*3106C=)
n.3252C=
c.*3184C= (n.*3184C=)
n.343C=
c.3491C= (p.Ala1164=)
c.3449C= (p.Ala1150=)
c.3713C= (p.Ala1238=)
c.3635C= (p.Ala1212=)
c.3602C= (p.Ala1201=)
c.3611C= (p.Ala1204=)
c.2621C= (p.Ala874=)
1g.154584903G>TCA342634642ADARc.3478C>A (n.3478C>A)
c.3614C>A (p.Ala1205Asp)
c.3467C>A (p.Ala1156Asp)
c.3236C>A (p.Ala1079Asp)
c.2699C>A (p.Ala900Asp)
c.3584C>A (p.Ala1195Asp)
n.2377C>A
c.3506C>A (p.Ala1169Asp)
n.3569C>A
c.*1059C>A (n.*1059C>A)
n.4320C>A
c.*750C>A (n.*750C>A)
c.*1816C>A (n.*1816C>A)
n.4445C>A
c.2642C>A (p.Ala881Asp)
c.3401C>A (p.Ala1134Asp)
c.*3106C>A (n.*3106C>A)
n.3252C>A
c.*3184C>A (n.*3184C>A)
n.343C>A
c.3491C>A (p.Ala1164Asp)
c.3449C>A (p.Ala1150Asp)
c.3713C>A (p.Ala1238Asp)
c.3635C>A (p.Ala1212Asp)
c.3602C>A (p.Ala1201Asp)
c.3611C>A (p.Ala1204Asp)
c.2621C>A (p.Ala874Asp)
1g.154584904C>ACA342634643ADARc.3477G>T (n.3477G>T)
c.3613G>T (p.Ala1205Ser)
c.3466G>T (p.Ala1156Ser)
c.3235G>T (p.Ala1079Ser)
c.2698G>T (p.Ala900Ser)
c.3583G>T (p.Ala1195Ser)
n.2376G>T
c.3505G>T (p.Ala1169Ser)
n.3568G>T
c.*1058G>T (n.*1058G>T)
n.4319G>T
c.*749G>T (n.*749G>T)
c.*1815G>T (n.*1815G>T)
n.4444G>T
c.2641G>T (p.Ala881Ser)
c.3400G>T (p.Ala1134Ser)
c.*3105G>T (n.*3105G>T)
n.3251G>T
c.*3183G>T (n.*3183G>T)
n.342G>T
c.3490G>T (p.Ala1164Ser)
c.3448G>T (p.Ala1150Ser)
c.3712G>T (p.Ala1238Ser)
c.3634G>T (p.Ala1212Ser)
c.3601G>T (p.Ala1201Ser)
c.3610G>T (p.Ala1204Ser)
c.2620G>T (p.Ala874Ser)
1g.154584904C>GCA342634645ADARc.3477G>C (n.3477G>C)
c.3613G>C (p.Ala1205Pro)
c.3466G>C (p.Ala1156Pro)
c.3235G>C (p.Ala1079Pro)
c.2698G>C (p.Ala900Pro)
c.3583G>C (p.Ala1195Pro)
n.2376G>C
c.3505G>C (p.Ala1169Pro)
n.3568G>C
c.*1058G>C (n.*1058G>C)
n.4319G>C
c.*749G>C (n.*749G>C)
c.*1815G>C (n.*1815G>C)
n.4444G>C
c.2641G>C (p.Ala881Pro)
c.3400G>C (p.Ala1134Pro)
c.*3105G>C (n.*3105G>C)
n.3251G>C
c.*3183G>C (n.*3183G>C)
n.342G>C
c.3490G>C (p.Ala1164Pro)
c.3448G>C (p.Ala1150Pro)
c.3712G>C (p.Ala1238Pro)
c.3634G>C (p.Ala1212Pro)
c.3601G>C (p.Ala1201Pro)
c.3610G>C (p.Ala1204Pro)
c.2620G>C (p.Ala874Pro)
1g.154584904C>TCA342634644ADARc.3477G>A (n.3477G>A)
c.3613G>A (p.Ala1205Thr)
c.3466G>A (p.Ala1156Thr)
c.3235G>A (p.Ala1079Thr)
c.2698G>A (p.Ala900Thr)
c.3583G>A (p.Ala1195Thr)
n.2376G>A
c.3505G>A (p.Ala1169Thr)
n.3568G>A
c.*1058G>A (n.*1058G>A)
n.4319G>A
c.*749G>A (n.*749G>A)
c.*1815G>A (n.*1815G>A)
n.4444G>A
c.2641G>A (p.Ala881Thr)
c.3400G>A (p.Ala1134Thr)
c.*3105G>A (n.*3105G>A)
n.3251G>A
c.*3183G>A (n.*3183G>A)
n.342G>A
c.3490G>A (p.Ala1164Thr)
c.3448G>A (p.Ala1150Thr)
c.3712G>A (p.Ala1238Thr)
c.3634G>A (p.Ala1212Thr)
c.3601G>A (p.Ala1201Thr)
c.3610G>A (p.Ala1204Thr)
c.2620G>A (p.Ala874Thr)
 COSMIC COSMIC
1g.154584905C>ACA421231440ADARc.3476G>T (n.3476G>T)
c.3612G>T (p.Thr1204=)
c.3465G>T (p.Thr1155=)
c.3234G>T (p.Thr1078=)
c.2697G>T (p.Thr899=)
c.3582G>T (p.Thr1194=)
n.2375G>T
c.3504G>T (p.Thr1168=)
n.3567G>T
c.*1057G>T (n.*1057G>T)
n.4318G>T
c.*748G>T (n.*748G>T)
c.*1814G>T (n.*1814G>T)
n.4443G>T
c.2640G>T (p.Thr880=)
c.3399G>T (p.Thr1133=)
c.*3104G>T (n.*3104G>T)
n.3250G>T
c.*3182G>T (n.*3182G>T)
n.341G>T
c.3489G>T (p.Thr1163=)
c.3447G>T (p.Thr1149=)
c.3711G>T (p.Thr1237=)
c.3633G>T (p.Thr1211=)
c.3600G>T (p.Thr1200=)
c.3609G>T (p.Thr1203=)
c.2619G>T (p.Thr873=)
 dbSNP
1g.154584905C=CA2480931196ADARc.3476G= (n.3476G=)
c.3612G= (p.Thr1204=)
c.3465G= (p.Thr1155=)
c.3234G= (p.Thr1078=)
c.2697G= (p.Thr899=)
c.3582G= (p.Thr1194=)
n.2375G=
c.3504G= (p.Thr1168=)
n.3567G=
c.*1057G= (n.*1057G=)
n.4318G=
c.*748G= (n.*748G=)
c.*1814G= (n.*1814G=)
n.4443G=
c.2640G= (p.Thr880=)
c.3399G= (p.Thr1133=)
c.*3104G= (n.*3104G=)
n.3250G=
c.*3182G= (n.*3182G=)
n.341G=
c.3489G= (p.Thr1163=)
c.3447G= (p.Thr1149=)
c.3711G= (p.Thr1237=)
c.3633G= (p.Thr1211=)
c.3600G= (p.Thr1200=)
c.3609G= (p.Thr1203=)
c.2619G= (p.Thr873=)
1g.154584905C>GCA421231441ADARc.3476G>C (n.3476G>C)
c.3612G>C (p.Thr1204=)
c.3465G>C (p.Thr1155=)
c.3234G>C (p.Thr1078=)
c.2697G>C (p.Thr899=)
c.3582G>C (p.Thr1194=)
n.2375G>C
c.3504G>C (p.Thr1168=)
n.3567G>C
c.*1057G>C (n.*1057G>C)
n.4318G>C
c.*748G>C (n.*748G>C)
c.*1814G>C (n.*1814G>C)
n.4443G>C
c.2640G>C (p.Thr880=)
c.3399G>C (p.Thr1133=)
c.*3104G>C (n.*3104G>C)
n.3250G>C
c.*3182G>C (n.*3182G>C)
n.341G>C
c.3489G>C (p.Thr1163=)
c.3447G>C (p.Thr1149=)
c.3711G>C (p.Thr1237=)
c.3633G>C (p.Thr1211=)
c.3600G>C (p.Thr1200=)
c.3609G>C (p.Thr1203=)
c.2619G>C (p.Thr873=)
1g.154584905C>TCA1130917ADARc.3476G>A (n.3476G>A)
c.3612G>A (p.Thr1204=)
c.3465G>A (p.Thr1155=)
c.3234G>A (p.Thr1078=)
c.2697G>A (p.Thr899=)
c.3582G>A (p.Thr1194=)
n.2375G>A
c.3504G>A (p.Thr1168=)
n.3567G>A
c.*1057G>A (n.*1057G>A)
n.4318G>A
c.*748G>A (n.*748G>A)
c.*1814G>A (n.*1814G>A)
n.4443G>A
c.2640G>A (p.Thr880=)
c.3399G>A (p.Thr1133=)
c.*3104G>A (n.*3104G>A)
n.3250G>A
c.*3182G>A (n.*3182G>A)
n.341G>A
c.3489G>A (p.Thr1163=)
c.3447G>A (p.Thr1149=)
c.3711G>A (p.Thr1237=)
c.3633G>A (p.Thr1211=)
c.3600G>A (p.Thr1200=)
c.3609G>A (p.Thr1203=)
c.2619G>A (p.Thr873=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.154584906G>ACA1130918ADARc.3475C>T (n.3475C>T)
c.3611C>T (p.Thr1204Met)
c.3464C>T (p.Thr1155Met)
c.3233C>T (p.Thr1078Met)
c.2696C>T (p.Thr899Met)
c.3581C>T (p.Thr1194Met)
n.2374C>T
c.3503C>T (p.Thr1168Met)
n.3566C>T
c.*1056C>T (n.*1056C>T)
n.4317C>T
c.*747C>T (n.*747C>T)
c.*1813C>T (n.*1813C>T)
n.4442C>T
c.2639C>T (p.Thr880Met)
c.3398C>T (p.Thr1133Met)
c.*3103C>T (n.*3103C>T)
n.3249C>T
c.*3181C>T (n.*3181C>T)
n.340C>T
c.3488C>T (p.Thr1163Met)
c.3446C>T (p.Thr1149Met)
c.3710C>T (p.Thr1237Met)
c.3632C>T (p.Thr1211Met)
c.3599C>T (p.Thr1200Met)
c.3608C>T (p.Thr1203Met)
c.2618C>T (p.Thr873Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584906G>CCA342634646ADARc.3475C>G (n.3475C>G)
c.3611C>G (p.Thr1204Arg)
c.3464C>G (p.Thr1155Arg)
c.3233C>G (p.Thr1078Arg)
c.2696C>G (p.Thr899Arg)
c.3581C>G (p.Thr1194Arg)
n.2374C>G
c.3503C>G (p.Thr1168Arg)
n.3566C>G
c.*1056C>G (n.*1056C>G)
n.4317C>G
c.*747C>G (n.*747C>G)
c.*1813C>G (n.*1813C>G)
n.4442C>G
c.2639C>G (p.Thr880Arg)
c.3398C>G (p.Thr1133Arg)
c.*3103C>G (n.*3103C>G)
n.3249C>G
c.*3181C>G (n.*3181C>G)
n.340C>G
c.3488C>G (p.Thr1163Arg)
c.3446C>G (p.Thr1149Arg)
c.3710C>G (p.Thr1237Arg)
c.3632C>G (p.Thr1211Arg)
c.3599C>G (p.Thr1200Arg)
c.3608C>G (p.Thr1203Arg)
c.2618C>G (p.Thr873Arg)
1g.154584906G=CA1143562032ADARc.3475C= (n.3475C=)
c.3611C= (p.Thr1204=)
c.3464C= (p.Thr1155=)
c.3233C= (p.Thr1078=)
c.2696C= (p.Thr899=)
c.3581C= (p.Thr1194=)
n.2374C=
c.3503C= (p.Thr1168=)
n.3566C=
c.*1056C= (n.*1056C=)
n.4317C=
c.*747C= (n.*747C=)
c.*1813C= (n.*1813C=)
n.4442C=
c.2639C= (p.Thr880=)
c.3398C= (p.Thr1133=)
c.*3103C= (n.*3103C=)
n.3249C=
c.*3181C= (n.*3181C=)
n.340C=
c.3488C= (p.Thr1163=)
c.3446C= (p.Thr1149=)
c.3710C= (p.Thr1237=)
c.3632C= (p.Thr1211=)
c.3599C= (p.Thr1200=)
c.3608C= (p.Thr1203=)
c.2618C= (p.Thr873=)
1g.154584906G>TCA342634647ADARc.3475C>A (n.3475C>A)
c.3611C>A (p.Thr1204Lys)
c.3464C>A (p.Thr1155Lys)
c.3233C>A (p.Thr1078Lys)
c.2696C>A (p.Thr899Lys)
c.3581C>A (p.Thr1194Lys)
n.2374C>A
c.3503C>A (p.Thr1168Lys)
n.3566C>A
c.*1056C>A (n.*1056C>A)
n.4317C>A
c.*747C>A (n.*747C>A)
c.*1813C>A (n.*1813C>A)
n.4442C>A
c.2639C>A (p.Thr880Lys)
c.3398C>A (p.Thr1133Lys)
c.*3103C>A (n.*3103C>A)
n.3249C>A
c.*3181C>A (n.*3181C>A)
n.340C>A
c.3488C>A (p.Thr1163Lys)
c.3446C>A (p.Thr1149Lys)
c.3710C>A (p.Thr1237Lys)
c.3632C>A (p.Thr1211Lys)
c.3599C>A (p.Thr1200Lys)
c.3608C>A (p.Thr1203Lys)
c.2618C>A (p.Thr873Lys)
1g.154584907T>ACA342634648ADARc.3474A>T (n.3474A>T)
c.3610A>T (p.Thr1204Ser)
c.3463A>T (p.Thr1155Ser)
c.3232A>T (p.Thr1078Ser)
c.2695A>T (p.Thr899Ser)
c.3580A>T (p.Thr1194Ser)
n.2373A>T
c.3502A>T (p.Thr1168Ser)
n.3565A>T
c.*1055A>T (n.*1055A>T)
n.4316A>T
c.*746A>T (n.*746A>T)
c.*1812A>T (n.*1812A>T)
n.4441A>T
c.2638A>T (p.Thr880Ser)
c.3397A>T (p.Thr1133Ser)
c.*3102A>T (n.*3102A>T)
n.3248A>T
c.*3180A>T (n.*3180A>T)
n.339A>T
c.3487A>T (p.Thr1163Ser)
c.3445A>T (p.Thr1149Ser)
c.3709A>T (p.Thr1237Ser)
c.3631A>T (p.Thr1211Ser)
c.3598A>T (p.Thr1200Ser)
c.3607A>T (p.Thr1203Ser)
c.2617A>T (p.Thr873Ser)
1g.154584907T>CCA342634649ADARc.3474A>G (n.3474A>G)
c.3610A>G (p.Thr1204Ala)
c.3463A>G (p.Thr1155Ala)
c.3232A>G (p.Thr1078Ala)
c.2695A>G (p.Thr899Ala)
c.3580A>G (p.Thr1194Ala)
n.2373A>G
c.3502A>G (p.Thr1168Ala)
n.3565A>G
c.*1055A>G (n.*1055A>G)
n.4316A>G
c.*746A>G (n.*746A>G)
c.*1812A>G (n.*1812A>G)
n.4441A>G
c.2638A>G (p.Thr880Ala)
c.3397A>G (p.Thr1133Ala)
c.*3102A>G (n.*3102A>G)
n.3248A>G
c.*3180A>G (n.*3180A>G)
n.339A>G
c.3487A>G (p.Thr1163Ala)
c.3445A>G (p.Thr1149Ala)
c.3709A>G (p.Thr1237Ala)
c.3631A>G (p.Thr1211Ala)
c.3598A>G (p.Thr1200Ala)
c.3607A>G (p.Thr1203Ala)
c.2617A>G (p.Thr873Ala)
 COSMIC COSMIC
1g.154584907T>GCA342634650ADARc.3474A>C (n.3474A>C)
c.3610A>C (p.Thr1204Pro)
c.3463A>C (p.Thr1155Pro)
c.3232A>C (p.Thr1078Pro)
c.2695A>C (p.Thr899Pro)
c.3580A>C (p.Thr1194Pro)
n.2373A>C
c.3502A>C (p.Thr1168Pro)
n.3565A>C
c.*1055A>C (n.*1055A>C)
n.4316A>C
c.*746A>C (n.*746A>C)
c.*1812A>C (n.*1812A>C)
n.4441A>C
c.2638A>C (p.Thr880Pro)
c.3397A>C (p.Thr1133Pro)
c.*3102A>C (n.*3102A>C)
n.3248A>C
c.*3180A>C (n.*3180A>C)
n.339A>C
c.3487A>C (p.Thr1163Pro)
c.3445A>C (p.Thr1149Pro)
c.3709A>C (p.Thr1237Pro)
c.3631A>C (p.Thr1211Pro)
c.3598A>C (p.Thr1200Pro)
c.3607A>C (p.Thr1203Pro)
c.2617A>C (p.Thr873Pro)
1g.154584908C>ACA342634651ADARc.3473G>T (n.3473G>T)
c.3609G>T (p.Glu1203Asp)
c.3462G>T (p.Glu1154Asp)
c.3231G>T (p.Glu1077Asp)
c.2694G>T (p.Glu898Asp)
c.3579G>T (p.Glu1193Asp)
n.2372G>T
c.3501G>T (p.Glu1167Asp)
n.3564G>T
c.*1054G>T (n.*1054G>T)
n.4315G>T
c.*745G>T (n.*745G>T)
c.*1811G>T (n.*1811G>T)
n.4440G>T
c.2637G>T (p.Glu879Asp)
c.3396G>T (p.Glu1132Asp)
c.*3101G>T (n.*3101G>T)
n.3247G>T
c.*3179G>T (n.*3179G>T)
n.338G>T
c.3486G>T (p.Glu1162Asp)
c.3444G>T (p.Glu1148Asp)
c.3708G>T (p.Glu1236Asp)
c.3630G>T (p.Glu1210Asp)
c.3597G>T (p.Glu1199Asp)
c.3606G>T (p.Glu1202Asp)
c.2616G>T (p.Glu872Asp)
 gnomAD v4
1g.154584908C>GCA342634652ADARc.3473G>C (n.3473G>C)
c.3609G>C (p.Glu1203Asp)
c.3462G>C (p.Glu1154Asp)
c.3231G>C (p.Glu1077Asp)
c.2694G>C (p.Glu898Asp)
c.3579G>C (p.Glu1193Asp)
n.2372G>C
c.3501G>C (p.Glu1167Asp)
n.3564G>C
c.*1054G>C (n.*1054G>C)
n.4315G>C
c.*745G>C (n.*745G>C)
c.*1811G>C (n.*1811G>C)
n.4440G>C
c.2637G>C (p.Glu879Asp)
c.3396G>C (p.Glu1132Asp)
c.*3101G>C (n.*3101G>C)
n.3247G>C
c.*3179G>C (n.*3179G>C)
n.338G>C
c.3486G>C (p.Glu1162Asp)
c.3444G>C (p.Glu1148Asp)
c.3708G>C (p.Glu1236Asp)
c.3630G>C (p.Glu1210Asp)
c.3597G>C (p.Glu1199Asp)
c.3606G>C (p.Glu1202Asp)
c.2616G>C (p.Glu872Asp)
1g.154584908C>TCA421231445ADARc.3473G>A (n.3473G>A)
c.3609G>A (p.Glu1203=)
c.3462G>A (p.Glu1154=)
c.3231G>A (p.Glu1077=)
c.2694G>A (p.Glu898=)
c.3579G>A (p.Glu1193=)
n.2372G>A
c.3501G>A (p.Glu1167=)
n.3564G>A
c.*1054G>A (n.*1054G>A)
n.4315G>A
c.*745G>A (n.*745G>A)
c.*1811G>A (n.*1811G>A)
n.4440G>A
c.2637G>A (p.Glu879=)
c.3396G>A (p.Glu1132=)
c.*3101G>A (n.*3101G>A)
n.3247G>A
c.*3179G>A (n.*3179G>A)
n.338G>A
c.3486G>A (p.Glu1162=)
c.3444G>A (p.Glu1148=)
c.3708G>A (p.Glu1236=)
c.3630G>A (p.Glu1210=)
c.3597G>A (p.Glu1199=)
c.3606G>A (p.Glu1202=)
c.2616G>A (p.Glu872=)
1g.154584909T>ACA342634653ADARc.3472A>T (n.3472A>T)
c.3608A>T (p.Glu1203Val)
c.3461A>T (p.Glu1154Val)
c.3230A>T (p.Glu1077Val)
c.2693A>T (p.Glu898Val)
c.3578A>T (p.Glu1193Val)
n.2371A>T
c.3500A>T (p.Glu1167Val)
n.3563A>T
c.*1053A>T (n.*1053A>T)
n.4314A>T
c.*744A>T (n.*744A>T)
c.*1810A>T (n.*1810A>T)
n.4439A>T
c.2636A>T (p.Glu879Val)
c.3395A>T (p.Glu1132Val)
c.*3100A>T (n.*3100A>T)
n.3246A>T
c.*3178A>T (n.*3178A>T)
n.337A>T
c.3485A>T (p.Glu1162Val)
c.3443A>T (p.Glu1148Val)
c.3707A>T (p.Glu1236Val)
c.3629A>T (p.Glu1210Val)
c.3596A>T (p.Glu1199Val)
c.3605A>T (p.Glu1202Val)
c.2615A>T (p.Glu872Val)
1g.154584909T>CCA342634654ADARc.3472A>G (n.3472A>G)
c.3608A>G (p.Glu1203Gly)
c.3461A>G (p.Glu1154Gly)
c.3230A>G (p.Glu1077Gly)
c.2693A>G (p.Glu898Gly)
c.3578A>G (p.Glu1193Gly)
n.2371A>G
c.3500A>G (p.Glu1167Gly)
n.3563A>G
c.*1053A>G (n.*1053A>G)
n.4314A>G
c.*744A>G (n.*744A>G)
c.*1810A>G (n.*1810A>G)
n.4439A>G
c.2636A>G (p.Glu879Gly)
c.3395A>G (p.Glu1132Gly)
c.*3100A>G (n.*3100A>G)
n.3246A>G
c.*3178A>G (n.*3178A>G)
n.337A>G
c.3485A>G (p.Glu1162Gly)
c.3443A>G (p.Glu1148Gly)
c.3707A>G (p.Glu1236Gly)
c.3629A>G (p.Glu1210Gly)
c.3596A>G (p.Glu1199Gly)
c.3605A>G (p.Glu1202Gly)
c.2615A>G (p.Glu872Gly)
1g.154584909T>GCA342634655ADARc.3472A>C (n.3472A>C)
c.3608A>C (p.Glu1203Ala)
c.3461A>C (p.Glu1154Ala)
c.3230A>C (p.Glu1077Ala)
c.2693A>C (p.Glu898Ala)
c.3578A>C (p.Glu1193Ala)
n.2371A>C
c.3500A>C (p.Glu1167Ala)
n.3563A>C
c.*1053A>C (n.*1053A>C)
n.4314A>C
c.*744A>C (n.*744A>C)
c.*1810A>C (n.*1810A>C)
n.4439A>C
c.2636A>C (p.Glu879Ala)
c.3395A>C (p.Glu1132Ala)
c.*3100A>C (n.*3100A>C)
n.3246A>C
c.*3178A>C (n.*3178A>C)
n.337A>C
c.3485A>C (p.Glu1162Ala)
c.3443A>C (p.Glu1148Ala)
c.3707A>C (p.Glu1236Ala)
c.3629A>C (p.Glu1210Ala)
c.3596A>C (p.Glu1199Ala)
c.3605A>C (p.Glu1202Ala)
c.2615A>C (p.Glu872Ala)
1g.154584910C>ACA342634657ADARc.3471G>T (n.3471G>T)
c.3607G>T (p.Glu1203Ter)
c.3460G>T (p.Glu1154Ter)
c.3229G>T (p.Glu1077Ter)
c.2692G>T (p.Glu898Ter)
c.3577G>T (p.Glu1193Ter)
n.2370G>T
c.3499G>T (p.Glu1167Ter)
n.3562G>T
c.*1052G>T (n.*1052G>T)
n.4313G>T
c.*743G>T (n.*743G>T)
c.*1809G>T (n.*1809G>T)
n.4438G>T
c.2635G>T (p.Glu879Ter)
c.3394G>T (p.Glu1132Ter)
c.*3099G>T (n.*3099G>T)
n.3245G>T
c.*3177G>T (n.*3177G>T)
n.336G>T
c.3484G>T (p.Glu1162Ter)
c.3442G>T (p.Glu1148Ter)
c.3706G>T (p.Glu1236Ter)
c.3628G>T (p.Glu1210Ter)
c.3595G>T (p.Glu1199Ter)
c.3604G>T (p.Glu1202Ter)
c.2614G>T (p.Glu872Ter)
1g.154584910C=CA2480931197ADARc.3471G= (n.3471G=)
c.3607G= (p.Glu1203=)
c.3460G= (p.Glu1154=)
c.3229G= (p.Glu1077=)
c.2692G= (p.Glu898=)
c.3577G= (p.Glu1193=)
n.2370G=
c.3499G= (p.Glu1167=)
n.3562G=
c.*1052G= (n.*1052G=)
n.4313G=
c.*743G= (n.*743G=)
c.*1809G= (n.*1809G=)
n.4438G=
c.2635G= (p.Glu879=)
c.3394G= (p.Glu1132=)
c.*3099G= (n.*3099G=)
n.3245G=
c.*3177G= (n.*3177G=)
n.336G=
c.3484G= (p.Glu1162=)
c.3442G= (p.Glu1148=)
c.3706G= (p.Glu1236=)
c.3628G= (p.Glu1210=)
c.3595G= (p.Glu1199=)
c.3604G= (p.Glu1202=)
c.2614G= (p.Glu872=)
1g.154584910C>GCA342634656ADARc.3471G>C (n.3471G>C)
c.3607G>C (p.Glu1203Gln)
c.3460G>C (p.Glu1154Gln)
c.3229G>C (p.Glu1077Gln)
c.2692G>C (p.Glu898Gln)
c.3577G>C (p.Glu1193Gln)
n.2370G>C
c.3499G>C (p.Glu1167Gln)
n.3562G>C
c.*1052G>C (n.*1052G>C)
n.4313G>C
c.*743G>C (n.*743G>C)
c.*1809G>C (n.*1809G>C)
n.4438G>C
c.2635G>C (p.Glu879Gln)
c.3394G>C (p.Glu1132Gln)
c.*3099G>C (n.*3099G>C)
n.3245G>C
c.*3177G>C (n.*3177G>C)
n.336G>C
c.3484G>C (p.Glu1162Gln)
c.3442G>C (p.Glu1148Gln)
c.3706G>C (p.Glu1236Gln)
c.3628G>C (p.Glu1210Gln)
c.3595G>C (p.Glu1199Gln)
c.3604G>C (p.Glu1202Gln)
c.2614G>C (p.Glu872Gln)
1g.154584910C>TCA16616992ADARc.3471G>A (n.3471G>A)
c.3607G>A (p.Glu1203Lys)
c.3460G>A (p.Glu1154Lys)
c.3229G>A (p.Glu1077Lys)
c.2692G>A (p.Glu898Lys)
c.3577G>A (p.Glu1193Lys)
n.2370G>A
c.3499G>A (p.Glu1167Lys)
n.3562G>A
c.*1052G>A (n.*1052G>A)
n.4313G>A
c.*743G>A (n.*743G>A)
c.*1809G>A (n.*1809G>A)
n.4438G>A
c.2635G>A (p.Glu879Lys)
c.3394G>A (p.Glu1132Lys)
c.*3099G>A (n.*3099G>A)
n.3245G>A
c.*3177G>A (n.*3177G>A)
n.336G>A
c.3484G>A (p.Glu1162Lys)
c.3442G>A (p.Glu1148Lys)
c.3706G>A (p.Glu1236Lys)
c.3628G>A (p.Glu1210Lys)
c.3595G>A (p.Glu1199Lys)
c.3604G>A (p.Glu1202Lys)
c.2614G>A (p.Glu872Lys)
 ClinVar dbSNP gnomAD v4
1g.154584911G>ACA1130919ADARc.3470C>T (n.3470C>T)
c.3606C>T (p.Tyr1202=)
c.3459C>T (p.Tyr1153=)
c.3228C>T (p.Tyr1076=)
c.2691C>T (p.Tyr897=)
c.3576C>T (p.Tyr1192=)
n.2369C>T
c.3498C>T (p.Tyr1166=)
n.3561C>T
c.*1051C>T (n.*1051C>T)
n.4312C>T
c.*742C>T (n.*742C>T)
c.*1808C>T (n.*1808C>T)
n.4437C>T
c.2634C>T (p.Tyr878=)
c.3393C>T (p.Tyr1131=)
c.*3098C>T (n.*3098C>T)
n.3244C>T
c.*3176C>T (n.*3176C>T)
n.335C>T
c.3483C>T (p.Tyr1161=)
c.3441C>T (p.Tyr1147=)
c.3705C>T (p.Tyr1235=)
c.3627C>T (p.Tyr1209=)
c.3594C>T (p.Tyr1198=)
c.3603C>T (p.Tyr1201=)
c.2613C>T (p.Tyr871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154584911G>CCA342634658ADARc.3470C>G (n.3470C>G)
c.3606C>G (p.Tyr1202Ter)
c.3459C>G (p.Tyr1153Ter)
c.3228C>G (p.Tyr1076Ter)
c.2691C>G (p.Tyr897Ter)
c.3576C>G (p.Tyr1192Ter)
n.2369C>G
c.3498C>G (p.Tyr1166Ter)
n.3561C>G
c.*1051C>G (n.*1051C>G)
n.4312C>G
c.*742C>G (n.*742C>G)
c.*1808C>G (n.*1808C>G)
n.4437C>G
c.2634C>G (p.Tyr878Ter)
c.3393C>G (p.Tyr1131Ter)
c.*3098C>G (n.*3098C>G)
n.3244C>G
c.*3176C>G (n.*3176C>G)
n.335C>G
c.3483C>G (p.Tyr1161Ter)
c.3441C>G (p.Tyr1147Ter)
c.3705C>G (p.Tyr1235Ter)
c.3627C>G (p.Tyr1209Ter)
c.3594C>G (p.Tyr1198Ter)
c.3603C>G (p.Tyr1201Ter)
c.2613C>G (p.Tyr871Ter)
1g.154584911G=CA2480931198ADARc.3470C= (n.3470C=)
c.3606C= (p.Tyr1202=)
c.3459C= (p.Tyr1153=)
c.3228C= (p.Tyr1076=)
c.2691C= (p.Tyr897=)
c.3576C= (p.Tyr1192=)
n.2369C=
c.3498C= (p.Tyr1166=)
n.3561C=
c.*1051C= (n.*1051C=)
n.4312C=
c.*742C= (n.*742C=)
c.*1808C= (n.*1808C=)
n.4437C=
c.2634C= (p.Tyr878=)
c.3393C= (p.Tyr1131=)
c.*3098C= (n.*3098C=)
n.3244C=
c.*3176C= (n.*3176C=)
n.335C=
c.3483C= (p.Tyr1161=)
c.3441C= (p.Tyr1147=)
c.3705C= (p.Tyr1235=)
c.3627C= (p.Tyr1209=)
c.3594C= (p.Tyr1198=)
c.3603C= (p.Tyr1201=)
c.2613C= (p.Tyr871=)
1g.154584911G>TCA342634659ADARc.3470C>A (n.3470C>A)
c.3606C>A (p.Tyr1202Ter)
c.3459C>A (p.Tyr1153Ter)
c.3228C>A (p.Tyr1076Ter)
c.2691C>A (p.Tyr897Ter)
c.3576C>A (p.Tyr1192Ter)
n.2369C>A
c.3498C>A (p.Tyr1166Ter)
n.3561C>A
c.*1051C>A (n.*1051C>A)
n.4312C>A
c.*742C>A (n.*742C>A)
c.*1808C>A (n.*1808C>A)
n.4437C>A
c.2634C>A (p.Tyr878Ter)
c.3393C>A (p.Tyr1131Ter)
c.*3098C>A (n.*3098C>A)
n.3244C>A
c.*3176C>A (n.*3176C>A)
n.335C>A
c.3483C>A (p.Tyr1161Ter)
c.3441C>A (p.Tyr1147Ter)
c.3705C>A (p.Tyr1235Ter)
c.3627C>A (p.Tyr1209Ter)
c.3594C>A (p.Tyr1198Ter)
c.3603C>A (p.Tyr1201Ter)
c.2613C>A (p.Tyr871Ter)
1g.154584912T>ACA342634660ADARc.3469A>T (n.3469A>T)
c.3605A>T (p.Tyr1202Phe)
c.3458A>T (p.Tyr1153Phe)
c.3227A>T (p.Tyr1076Phe)
c.2690A>T (p.Tyr897Phe)
c.3575A>T (p.Tyr1192Phe)
n.2368A>T
c.3497A>T (p.Tyr1166Phe)
n.3560A>T
c.*1050A>T (n.*1050A>T)
n.4311A>T
c.*741A>T (n.*741A>T)
c.*1807A>T (n.*1807A>T)
n.4436A>T
c.2633A>T (p.Tyr878Phe)
c.3392A>T (p.Tyr1131Phe)
c.*3097A>T (n.*3097A>T)
n.3243A>T
c.*3175A>T (n.*3175A>T)
n.334A>T
c.3482A>T (p.Tyr1161Phe)
c.3440A>T (p.Tyr1147Phe)
c.3704A>T (p.Tyr1235Phe)
c.3626A>T (p.Tyr1209Phe)
c.3593A>T (p.Tyr1198Phe)
c.3602A>T (p.Tyr1201Phe)
c.2612A>T (p.Tyr871Phe)
1g.154584912T>CCA342634661ADARc.3469A>G (n.3469A>G)
c.3605A>G (p.Tyr1202Cys)
c.3458A>G (p.Tyr1153Cys)
c.3227A>G (p.Tyr1076Cys)
c.2690A>G (p.Tyr897Cys)
c.3575A>G (p.Tyr1192Cys)
n.2368A>G
c.3497A>G (p.Tyr1166Cys)
n.3560A>G
c.*1050A>G (n.*1050A>G)
n.4311A>G
c.*741A>G (n.*741A>G)
c.*1807A>G (n.*1807A>G)
n.4436A>G
c.2633A>G (p.Tyr878Cys)
c.3392A>G (p.Tyr1131Cys)
c.*3097A>G (n.*3097A>G)
n.3243A>G
c.*3175A>G (n.*3175A>G)
n.334A>G
c.3482A>G (p.Tyr1161Cys)
c.3440A>G (p.Tyr1147Cys)
c.3704A>G (p.Tyr1235Cys)
c.3626A>G (p.Tyr1209Cys)
c.3593A>G (p.Tyr1198Cys)
c.3602A>G (p.Tyr1201Cys)
c.2612A>G (p.Tyr871Cys)
 gnomAD v4
1g.154584912T>GCA342634662ADARc.3469A>C (n.3469A>C)
c.3605A>C (p.Tyr1202Ser)
c.3458A>C (p.Tyr1153Ser)
c.3227A>C (p.Tyr1076Ser)
c.2690A>C (p.Tyr897Ser)
c.3575A>C (p.Tyr1192Ser)
n.2368A>C
c.3497A>C (p.Tyr1166Ser)
n.3560A>C
c.*1050A>C (n.*1050A>C)
n.4311A>C
c.*741A>C (n.*741A>C)
c.*1807A>C (n.*1807A>C)
n.4436A>C
c.2633A>C (p.Tyr878Ser)
c.3392A>C (p.Tyr1131Ser)
c.*3097A>C (n.*3097A>C)
n.3243A>C
c.*3175A>C (n.*3175A>C)
n.334A>C
c.3482A>C (p.Tyr1161Ser)
c.3440A>C (p.Tyr1147Ser)
c.3704A>C (p.Tyr1235Ser)
c.3626A>C (p.Tyr1209Ser)
c.3593A>C (p.Tyr1198Ser)
c.3602A>C (p.Tyr1201Ser)
c.2612A>C (p.Tyr871Ser)
1g.154584913A>CCA342634663ADARc.3468T>G (n.3468T>G)
c.3604T>G (p.Tyr1202Asp)
c.3457T>G (p.Tyr1153Asp)
c.3226T>G (p.Tyr1076Asp)
c.2689T>G (p.Tyr897Asp)
c.3574T>G (p.Tyr1192Asp)
n.2367T>G
c.3496T>G (p.Tyr1166Asp)
n.3559T>G
c.*1049T>G (n.*1049T>G)
n.4310T>G
c.*740T>G (n.*740T>G)
c.*1806T>G (n.*1806T>G)
n.4435T>G
c.2632T>G (p.Tyr878Asp)
c.3391T>G (p.Tyr1131Asp)
c.*3096T>G (n.*3096T>G)
n.3242T>G
c.*3174T>G (n.*3174T>G)
n.333T>G
c.3481T>G (p.Tyr1161Asp)
c.3439T>G (p.Tyr1147Asp)
c.3703T>G (p.Tyr1235Asp)
c.3625T>G (p.Tyr1209Asp)
c.3592T>G (p.Tyr1198Asp)
c.3601T>G (p.Tyr1201Asp)
c.2611T>G (p.Tyr871Asp)
 ClinVar
1g.154584913A>GCA342634664ADARc.3468T>C (n.3468T>C)
c.3604T>C (p.Tyr1202His)
c.3457T>C (p.Tyr1153His)
c.3226T>C (p.Tyr1076His)
c.2689T>C (p.Tyr897His)
c.3574T>C (p.Tyr1192His)
n.2367T>C
c.3496T>C (p.Tyr1166His)
n.3559T>C
c.*1049T>C (n.*1049T>C)
n.4310T>C
c.*740T>C (n.*740T>C)
c.*1806T>C (n.*1806T>C)
n.4435T>C
c.2632T>C (p.Tyr878His)
c.3391T>C (p.Tyr1131His)
c.*3096T>C (n.*3096T>C)
n.3242T>C
c.*3174T>C (n.*3174T>C)
n.333T>C
c.3481T>C (p.Tyr1161His)
c.3439T>C (p.Tyr1147His)
c.3703T>C (p.Tyr1235His)
c.3625T>C (p.Tyr1209His)
c.3592T>C (p.Tyr1198His)
c.3601T>C (p.Tyr1201His)
c.2611T>C (p.Tyr871His)
1g.154584913A>TCA342634665ADARc.3468T>A (n.3468T>A)
c.3604T>A (p.Tyr1202Asn)
c.3457T>A (p.Tyr1153Asn)
c.3226T>A (p.Tyr1076Asn)
c.2689T>A (p.Tyr897Asn)
c.3574T>A (p.Tyr1192Asn)
n.2367T>A
c.3496T>A (p.Tyr1166Asn)
n.3559T>A
c.*1049T>A (n.*1049T>A)
n.4310T>A
c.*740T>A (n.*740T>A)
c.*1806T>A (n.*1806T>A)
n.4435T>A
c.2632T>A (p.Tyr878Asn)
c.3391T>A (p.Tyr1131Asn)
c.*3096T>A (n.*3096T>A)
n.3242T>A
c.*3174T>A (n.*3174T>A)
n.333T>A
c.3481T>A (p.Tyr1161Asn)
c.3439T>A (p.Tyr1147Asn)
c.3703T>A (p.Tyr1235Asn)
c.3625T>A (p.Tyr1209Asn)
c.3592T>A (p.Tyr1198Asn)
c.3601T>A (p.Tyr1201Asn)
c.2611T>A (p.Tyr871Asn)
1g.154584914G>ACA421231449ADARc.3467C>T (n.3467C>T)
c.3603C>T (p.Asp1201=)
c.3456C>T (p.Asp1152=)
c.3225C>T (p.Asp1075=)
c.2688C>T (p.Asp896=)
c.3573C>T (p.Asp1191=)
n.2366C>T
c.3495C>T (p.Asp1165=)
n.3558C>T
c.*1048C>T (n.*1048C>T)
n.4309C>T
c.*739C>T (n.*739C>T)
c.*1805C>T (n.*1805C>T)
n.4434C>T
c.2631C>T (p.Asp877=)
c.3390C>T (p.Asp1130=)
c.*3095C>T (n.*3095C>T)
n.3241C>T
c.*3173C>T (n.*3173C>T)
n.332C>T
c.3480C>T (p.Asp1160=)
c.3438C>T (p.Asp1146=)
c.3702C>T (p.Asp1234=)
c.3624C>T (p.Asp1208=)
c.3591C>T (p.Asp1197=)
c.3600C>T (p.Asp1200=)
c.2610C>T (p.Asp870=)
1g.154584914G>CCA342634666ADARc.3467C>G (n.3467C>G)
c.3603C>G (p.Asp1201Glu)
c.3456C>G (p.Asp1152Glu)
c.3225C>G (p.Asp1075Glu)
c.2688C>G (p.Asp896Glu)
c.3573C>G (p.Asp1191Glu)
n.2366C>G
c.3495C>G (p.Asp1165Glu)
n.3558C>G
c.*1048C>G (n.*1048C>G)
n.4309C>G
c.*739C>G (n.*739C>G)
c.*1805C>G (n.*1805C>G)
n.4434C>G
c.2631C>G (p.Asp877Glu)
c.3390C>G (p.Asp1130Glu)
c.*3095C>G (n.*3095C>G)
n.3241C>G
c.*3173C>G (n.*3173C>G)
n.332C>G
c.3480C>G (p.Asp1160Glu)
c.3438C>G (p.Asp1146Glu)
c.3702C>G (p.Asp1234Glu)
c.3624C>G (p.Asp1208Glu)
c.3591C>G (p.Asp1197Glu)
c.3600C>G (p.Asp1200Glu)
c.2610C>G (p.Asp870Glu)
1g.154584914G>TCA342634667ADARc.3467C>A (n.3467C>A)
c.3603C>A (p.Asp1201Glu)
c.3456C>A (p.Asp1152Glu)
c.3225C>A (p.Asp1075Glu)
c.2688C>A (p.Asp896Glu)
c.3573C>A (p.Asp1191Glu)
n.2366C>A
c.3495C>A (p.Asp1165Glu)
n.3558C>A
c.*1048C>A (n.*1048C>A)
n.4309C>A
c.*739C>A (n.*739C>A)
c.*1805C>A (n.*1805C>A)
n.4434C>A
c.2631C>A (p.Asp877Glu)
c.3390C>A (p.Asp1130Glu)
c.*3095C>A (n.*3095C>A)
n.3241C>A
c.*3173C>A (n.*3173C>A)
n.332C>A
c.3480C>A (p.Asp1160Glu)
c.3438C>A (p.Asp1146Glu)
c.3702C>A (p.Asp1234Glu)
c.3624C>A (p.Asp1208Glu)
c.3591C>A (p.Asp1197Glu)
c.3600C>A (p.Asp1200Glu)
c.2610C>A (p.Asp870Glu)
 dbSNP
1g.154584915T>ACA342634669ADARc.3466A>T (n.3466A>T)
c.3602A>T (p.Asp1201Val)
c.3455A>T (p.Asp1152Val)
c.3224A>T (p.Asp1075Val)
c.2687A>T (p.Asp896Val)
c.3572A>T (p.Asp1191Val)
n.2365A>T
c.3494A>T (p.Asp1165Val)
n.3557A>T
c.*1047A>T (n.*1047A>T)
n.4308A>T
c.*738A>T (n.*738A>T)
c.*1804A>T (n.*1804A>T)
n.4433A>T
c.2630A>T (p.Asp877Val)
c.3389A>T (p.Asp1130Val)
c.*3094A>T (n.*3094A>T)
n.3240A>T
c.*3172A>T (n.*3172A>T)
n.331A>T
c.3479A>T (p.Asp1160Val)
c.3437A>T (p.Asp1146Val)
c.3701A>T (p.Asp1234Val)
c.3623A>T (p.Asp1208Val)
c.3590A>T (p.Asp1197Val)
c.3599A>T (p.Asp1200Val)
c.2609A>T (p.Asp870Val)
1g.154584915T>CCA342634670ADARc.3466A>G (n.3466A>G)
c.3602A>G (p.Asp1201Gly)
c.3455A>G (p.Asp1152Gly)
c.3224A>G (p.Asp1075Gly)
c.2687A>G (p.Asp896Gly)
c.3572A>G (p.Asp1191Gly)
n.2365A>G
c.3494A>G (p.Asp1165Gly)
n.3557A>G
c.*1047A>G (n.*1047A>G)
n.4308A>G
c.*738A>G (n.*738A>G)
c.*1804A>G (n.*1804A>G)
n.4433A>G
c.2630A>G (p.Asp877Gly)
c.3389A>G (p.Asp1130Gly)
c.*3094A>G (n.*3094A>G)
n.3240A>G
c.*3172A>G (n.*3172A>G)
n.331A>G
c.3479A>G (p.Asp1160Gly)
c.3437A>G (p.Asp1146Gly)
c.3701A>G (p.Asp1234Gly)
c.3623A>G (p.Asp1208Gly)
c.3590A>G (p.Asp1197Gly)
c.3599A>G (p.Asp1200Gly)
c.2609A>G (p.Asp870Gly)
1g.154584915T>GCA342634668ADARc.3466A>C (n.3466A>C)
c.3602A>C (p.Asp1201Ala)
c.3455A>C (p.Asp1152Ala)
c.3224A>C (p.Asp1075Ala)
c.2687A>C (p.Asp896Ala)
c.3572A>C (p.Asp1191Ala)
n.2365A>C
c.3494A>C (p.Asp1165Ala)
n.3557A>C
c.*1047A>C (n.*1047A>C)
n.4308A>C
c.*738A>C (n.*738A>C)
c.*1804A>C (n.*1804A>C)
n.4433A>C
c.2630A>C (p.Asp877Ala)
c.3389A>C (p.Asp1130Ala)
c.*3094A>C (n.*3094A>C)
n.3240A>C
c.*3172A>C (n.*3172A>C)
n.331A>C
c.3479A>C (p.Asp1160Ala)
c.3437A>C (p.Asp1146Ala)
c.3701A>C (p.Asp1234Ala)
c.3623A>C (p.Asp1208Ala)
c.3590A>C (p.Asp1197Ala)
c.3599A>C (p.Asp1200Ala)
c.2609A>C (p.Asp870Ala)
1g.154584915_154584916insAACA2740187397ADARc.3465_3466insTT (n.3465_3466insTT)
c.3601_3602insTT (p.Asp1201ValfsTer14)
c.3454_3455insTT (p.Asp1152ValfsTer14)
c.3223_3224insTT (p.Asp1075ValfsTer14)
c.2686_2687insTT (p.Asp896ValfsTer14)
c.3571_3572insTT (p.Asp1191ValfsTer14)
n.2364_2365insTT
c.3493_3494insTT (p.Asp1165ValfsTer14)
n.3556_3557insTT
c.*1046_*1047insTT (n.*1046_*1047insTT)
n.4307_4308insTT
c.*737_*738insTT (n.*737_*738insTT)
c.*1803_*1804insTT (n.*1803_*1804insTT)
n.4432_4433insTT
c.2629_2630insTT (p.Asp877ValfsTer14)
c.3388_3389insTT (p.Asp1130ValfsTer14)
c.*3093_*3094insTT (n.*3093_*3094insTT)
n.3239_3240insTT
c.*3171_*3172insTT (n.*3171_*3172insTT)
n.330_331insTT
c.3478_3479insTT (p.Asp1160ValfsTer14)
c.3436_3437insTT (p.Asp1146ValfsTer14)
c.3700_3701insTT (p.Asp1234ValfsTer14)
c.3622_3623insTT (p.Asp1208ValfsTer14)
c.3589_3590insTT (p.Asp1197ValfsTer14)
c.3598_3599insTT (p.Asp1200ValfsTer14)
c.2608_2609insTT (p.Asp870ValfsTer14)
1g.154584916C>ACA342634671ADARc.3465G>T (n.3465G>T)
c.3601G>T (p.Asp1201Tyr)
c.3454G>T (p.Asp1152Tyr)
c.3223G>T (p.Asp1075Tyr)
c.2686G>T (p.Asp896Tyr)
c.3571G>T (p.Asp1191Tyr)
n.2364G>T
c.3493G>T (p.Asp1165Tyr)
n.3556G>T
c.*1046G>T (n.*1046G>T)
n.4307G>T
c.*737G>T (n.*737G>T)
c.*1803G>T (n.*1803G>T)
n.4432G>T
c.2629G>T (p.Asp877Tyr)
c.3388G>T (p.Asp1130Tyr)
c.*3093G>T (n.*3093G>T)
n.3239G>T
c.*3171G>T (n.*3171G>T)
n.330G>T
c.3478G>T (p.Asp1160Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3598G>T (p.Asp1200Tyr)
c.2608G>T (p.Asp870Tyr)
1g.154584916C=CA2480931199ADARc.3465G= (n.3465G=)
c.3601G= (p.Asp1201=)
c.3454G= (p.Asp1152=)
c.3223G= (p.Asp1075=)
c.2686G= (p.Asp896=)
c.3571G= (p.Asp1191=)
n.2364G=
c.3493G= (p.Asp1165=)
n.3556G=
c.*1046G= (n.*1046G=)
n.4307G=
c.*737G= (n.*737G=)
c.*1803G= (n.*1803G=)
n.4432G=
c.2629G= (p.Asp877=)
c.3388G= (p.Asp1130=)
c.*3093G= (n.*3093G=)
n.3239G=
c.*3171G= (n.*3171G=)
n.330G=
c.3478G= (p.Asp1160=)
c.3436G= (p.Asp1146=)
c.3700G= (p.Asp1234=)
c.3622G= (p.Asp1208=)
c.3589G= (p.Asp1197=)
c.3598G= (p.Asp1200=)
c.2608G= (p.Asp870=)
1g.154584916C>GCA342634672ADARc.3465G>C (n.3465G>C)
c.3601G>C (p.Asp1201His)
c.3454G>C (p.Asp1152His)
c.3223G>C (p.Asp1075His)
c.2686G>C (p.Asp896His)
c.3571G>C (p.Asp1191His)
n.2364G>C
c.3493G>C (p.Asp1165His)
n.3556G>C
c.*1046G>C (n.*1046G>C)
n.4307G>C
c.*737G>C (n.*737G>C)
c.*1803G>C (n.*1803G>C)
n.4432G>C
c.2629G>C (p.Asp877His)
c.3388G>C (p.Asp1130His)
c.*3093G>C (n.*3093G>C)
n.3239G>C
c.*3171G>C (n.*3171G>C)
n.330G>C
c.3478G>C (p.Asp1160His)
c.3436G>C (p.Asp1146His)
c.3700G>C (p.Asp1234His)
c.3622G>C (p.Asp1208His)
c.3589G>C (p.Asp1197His)
c.3598G>C (p.Asp1200His)
c.2608G>C (p.Asp870His)
 ClinVar dbSNP gnomAD v4
1g.154584916C>TCA342634673ADARc.3465G>A (n.3465G>A)
c.3601G>A (p.Asp1201Asn)
c.3454G>A (p.Asp1152Asn)
c.3223G>A (p.Asp1075Asn)
c.2686G>A (p.Asp896Asn)
c.3571G>A (p.Asp1191Asn)
n.2364G>A
c.3493G>A (p.Asp1165Asn)
n.3556G>A
c.*1046G>A (n.*1046G>A)
n.4307G>A
c.*737G>A (n.*737G>A)
c.*1803G>A (n.*1803G>A)
n.4432G>A
c.2629G>A (p.Asp877Asn)
c.3388G>A (p.Asp1130Asn)
c.*3093G>A (n.*3093G>A)
n.3239G>A
c.*3171G>A (n.*3171G>A)
n.330G>A
c.3478G>A (p.Asp1160Asn)
c.3436G>A (p.Asp1146Asn)
c.3700G>A (p.Asp1234Asn)
c.3622G>A (p.Asp1208Asn)
c.3589G>A (p.Asp1197Asn)
c.3598G>A (p.Asp1200Asn)
c.2608G>A (p.Asp870Asn)
1g.154584917A=CA2480931200ADARc.3464T= (n.3464T=)
c.3600T= (p.Arg1200=)
c.3453T= (p.Arg1151=)
c.3222T= (p.Arg1074=)
c.2685T= (p.Arg895=)
c.3570T= (p.Arg1190=)
n.2363T=
c.3492T= (p.Arg1164=)
n.3555T=
c.*1045T= (n.*1045T=)
n.4306T=
c.*736T= (n.*736T=)
c.*1802T= (n.*1802T=)
n.4431T=
c.2628T= (p.Arg876=)
c.3387T= (p.Arg1129=)
c.*3092T= (n.*3092T=)
n.3238T=
c.*3170T= (n.*3170T=)
n.329T=
c.3477T= (p.Arg1159=)
c.3435T= (p.Arg1145=)
c.3699T= (p.Arg1233=)
c.3621T= (p.Arg1207=)
c.3588T= (p.Arg1196=)
c.3597T= (p.Arg1199=)
c.2607T= (p.Arg869=)
1g.154584917A>CCA421231450ADARc.3464T>G (n.3464T>G)
c.3600T>G (p.Arg1200=)
c.3453T>G (p.Arg1151=)
c.3222T>G (p.Arg1074=)
c.2685T>G (p.Arg895=)
c.3570T>G (p.Arg1190=)
n.2363T>G
c.3492T>G (p.Arg1164=)
n.3555T>G
c.*1045T>G (n.*1045T>G)
n.4306T>G
c.*736T>G (n.*736T>G)
c.*1802T>G (n.*1802T>G)
n.4431T>G
c.2628T>G (p.Arg876=)
c.3387T>G (p.Arg1129=)
c.*3092T>G (n.*3092T>G)
n.3238T>G
c.*3170T>G (n.*3170T>G)
n.329T>G
c.3477T>G (p.Arg1159=)
c.3435T>G (p.Arg1145=)
c.3699T>G (p.Arg1233=)
c.3621T>G (p.Arg1207=)
c.3588T>G (p.Arg1196=)
c.3597T>G (p.Arg1199=)
c.2607T>G (p.Arg869=)
 dbSNP
1g.154584917A>GCA421231452ADARc.3464T>C (n.3464T>C)
c.3600T>C (p.Arg1200=)
c.3453T>C (p.Arg1151=)
c.3222T>C (p.Arg1074=)
c.2685T>C (p.Arg895=)
c.3570T>C (p.Arg1190=)
n.2363T>C
c.3492T>C (p.Arg1164=)
n.3555T>C
c.*1045T>C (n.*1045T>C)
n.4306T>C
c.*736T>C (n.*736T>C)
c.*1802T>C (n.*1802T>C)
n.4431T>C
c.2628T>C (p.Arg876=)
c.3387T>C (p.Arg1129=)
c.*3092T>C (n.*3092T>C)
n.3238T>C
c.*3170T>C (n.*3170T>C)
n.329T>C
c.3477T>C (p.Arg1159=)
c.3435T>C (p.Arg1145=)
c.3699T>C (p.Arg1233=)
c.3621T>C (p.Arg1207=)
c.3588T>C (p.Arg1196=)
c.3597T>C (p.Arg1199=)
c.2607T>C (p.Arg869=)
1g.154584917A>TCA421231451ADARc.3464T>A (n.3464T>A)
c.3600T>A (p.Arg1200=)
c.3453T>A (p.Arg1151=)
c.3222T>A (p.Arg1074=)
c.2685T>A (p.Arg895=)
c.3570T>A (p.Arg1190=)
n.2363T>A
c.3492T>A (p.Arg1164=)
n.3555T>A
c.*1045T>A (n.*1045T>A)
n.4306T>A
c.*736T>A (n.*736T>A)
c.*1802T>A (n.*1802T>A)
n.4431T>A
c.2628T>A (p.Arg876=)
c.3387T>A (p.Arg1129=)
c.*3092T>A (n.*3092T>A)
n.3238T>A
c.*3170T>A (n.*3170T>A)
n.329T>A
c.3477T>A (p.Arg1159=)
c.3435T>A (p.Arg1145=)
c.3699T>A (p.Arg1233=)
c.3621T>A (p.Arg1207=)
c.3588T>A (p.Arg1196=)
c.3597T>A (p.Arg1199=)
c.2607T>A (p.Arg869=)
1g.154584918C>ACA342634674ADARc.3463G>T (n.3463G>T)
c.3599G>T (p.Arg1200Leu)
c.3452G>T (p.Arg1151Leu)
c.3221G>T (p.Arg1074Leu)
c.2684G>T (p.Arg895Leu)
c.3569G>T (p.Arg1190Leu)
n.2362G>T
c.3491G>T (p.Arg1164Leu)
n.3554G>T
c.*1044G>T (n.*1044G>T)
n.4305G>T
c.*735G>T (n.*735G>T)
c.*1801G>T (n.*1801G>T)
n.4430G>T
c.2627G>T (p.Arg876Leu)
c.3386G>T (p.Arg1129Leu)
c.*3091G>T (n.*3091G>T)
n.3237G>T
c.*3169G>T (n.*3169G>T)
n.328G>T
c.3476G>T (p.Arg1159Leu)
c.3434G>T (p.Arg1145Leu)
c.3698G>T (p.Arg1233Leu)
c.3620G>T (p.Arg1207Leu)
c.3587G>T (p.Arg1196Leu)
c.3596G>T (p.Arg1199Leu)
c.2606G>T (p.Arg869Leu)
1g.154584918C=CA2480931201ADARc.3463G= (n.3463G=)
c.3599G= (p.Arg1200=)
c.3452G= (p.Arg1151=)
c.3221G= (p.Arg1074=)
c.2684G= (p.Arg895=)
c.3569G= (p.Arg1190=)
n.2362G=
c.3491G= (p.Arg1164=)
n.3554G=
c.*1044G= (n.*1044G=)
n.4305G=
c.*735G= (n.*735G=)
c.*1801G= (n.*1801G=)
n.4430G=
c.2627G= (p.Arg876=)
c.3386G= (p.Arg1129=)
c.*3091G= (n.*3091G=)
n.3237G=
c.*3169G= (n.*3169G=)
n.328G=
c.3476G= (p.Arg1159=)
c.3434G= (p.Arg1145=)
c.3698G= (p.Arg1233=)
c.3620G= (p.Arg1207=)
c.3587G= (p.Arg1196=)
c.3596G= (p.Arg1199=)
c.2606G= (p.Arg869=)
1g.154584918C>GCA342634675ADARc.3463G>C (n.3463G>C)
c.3599G>C (p.Arg1200Pro)
c.3452G>C (p.Arg1151Pro)
c.3221G>C (p.Arg1074Pro)
c.2684G>C (p.Arg895Pro)
c.3569G>C (p.Arg1190Pro)
n.2362G>C
c.3491G>C (p.Arg1164Pro)
n.3554G>C
c.*1044G>C (n.*1044G>C)
n.4305G>C
c.*735G>C (n.*735G>C)
c.*1801G>C (n.*1801G>C)
n.4430G>C
c.2627G>C (p.Arg876Pro)
c.3386G>C (p.Arg1129Pro)
c.*3091G>C (n.*3091G>C)
n.3237G>C
c.*3169G>C (n.*3169G>C)
n.328G>C
c.3476G>C (p.Arg1159Pro)
c.3434G>C (p.Arg1145Pro)
c.3698G>C (p.Arg1233Pro)
c.3620G>C (p.Arg1207Pro)
c.3587G>C (p.Arg1196Pro)
c.3596G>C (p.Arg1199Pro)
c.2606G>C (p.Arg869Pro)
1g.154584918C>TCA342634676ADARc.3463G>A (n.3463G>A)
c.3599G>A (p.Arg1200His)
c.3452G>A (p.Arg1151His)
c.3221G>A (p.Arg1074His)
c.2684G>A (p.Arg895His)
c.3569G>A (p.Arg1190His)
n.2362G>A
c.3491G>A (p.Arg1164His)
n.3554G>A
c.*1044G>A (n.*1044G>A)
n.4305G>A
c.*735G>A (n.*735G>A)
c.*1801G>A (n.*1801G>A)
n.4430G>A
c.2627G>A (p.Arg876His)
c.3386G>A (p.Arg1129His)
c.*3091G>A (n.*3091G>A)
n.3237G>A
c.*3169G>A (n.*3169G>A)
n.328G>A
c.3476G>A (p.Arg1159His)
c.3434G>A (p.Arg1145His)
c.3698G>A (p.Arg1233His)
c.3620G>A (p.Arg1207His)
c.3587G>A (p.Arg1196His)
c.3596G>A (p.Arg1199His)
c.2606G>A (p.Arg869His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.154584919G>ACA30848594ADARc.3462C>T (n.3462C>T)
c.3598C>T (p.Arg1200Cys)
c.3451C>T (p.Arg1151Cys)
c.3220C>T (p.Arg1074Cys)
c.2683C>T (p.Arg895Cys)
c.3568C>T (p.Arg1190Cys)
n.2361C>T
c.3490C>T (p.Arg1164Cys)
n.3553C>T
c.*1043C>T (n.*1043C>T)
n.4304C>T
c.*734C>T (n.*734C>T)
c.*1800C>T (n.*1800C>T)
n.4429C>T
c.2626C>T (p.Arg876Cys)
c.3385C>T (p.Arg1129Cys)
c.*3090C>T (n.*3090C>T)
n.3236C>T
c.*3168C>T (n.*3168C>T)
n.327C>T
c.3475C>T (p.Arg1159Cys)
c.3433C>T (p.Arg1145Cys)
c.3697C>T (p.Arg1233Cys)
c.3619C>T (p.Arg1207Cys)
c.3586C>T (p.Arg1196Cys)
c.3595C>T (p.Arg1199Cys)
c.2605C>T (p.Arg869Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.154584919G>CCA342634678ADARc.3462C>G (n.3462C>G)
c.3598C>G (p.Arg1200Gly)
c.3451C>G (p.Arg1151Gly)
c.3220C>G (p.Arg1074Gly)
c.2683C>G (p.Arg895Gly)
c.3568C>G (p.Arg1190Gly)
n.2361C>G
c.3490C>G (p.Arg1164Gly)
n.3553C>G
c.*1043C>G (n.*1043C>G)
n.4304C>G
c.*734C>G (n.*734C>G)
c.*1800C>G (n.*1800C>G)
n.4429C>G
c.2626C>G (p.Arg876Gly)
c.3385C>G (p.Arg1129Gly)
c.*3090C>G (n.*3090C>G)
n.3236C>G
c.*3168C>G (n.*3168C>G)
n.327C>G
c.3475C>G (p.Arg1159Gly)
c.3433C>G (p.Arg1145Gly)
c.3697C>G (p.Arg1233Gly)
c.3619C>G (p.Arg1207Gly)
c.3586C>G (p.Arg1196Gly)
c.3595C>G (p.Arg1199Gly)
c.2605C>G (p.Arg869Gly)
 ClinVar dbSNP gnomAD v4
1g.154584919G=CA2480931202ADARc.3462C= (n.3462C=)
c.3598C= (p.Arg1200=)
c.3451C= (p.Arg1151=)
c.3220C= (p.Arg1074=)
c.2683C= (p.Arg895=)
c.3568C= (p.Arg1190=)
n.2361C=
c.3490C= (p.Arg1164=)
n.3553C=
c.*1043C= (n.*1043C=)
n.4304C=
c.*734C= (n.*734C=)
c.*1800C= (n.*1800C=)
n.4429C=
c.2626C= (p.Arg876=)
c.3385C= (p.Arg1129=)
c.*3090C= (n.*3090C=)
n.3236C=
c.*3168C= (n.*3168C=)
n.327C=
c.3475C= (p.Arg1159=)
c.3433C= (p.Arg1145=)
c.3697C= (p.Arg1233=)
c.3619C= (p.Arg1207=)
c.3586C= (p.Arg1196=)
c.3595C= (p.Arg1199=)
c.2605C= (p.Arg869=)
1g.154584919G>TCA342634677ADARc.3462C>A (n.3462C>A)
c.3598C>A (p.Arg1200Ser)
c.3451C>A (p.Arg1151Ser)
c.3220C>A (p.Arg1074Ser)
c.2683C>A (p.Arg895Ser)
c.3568C>A (p.Arg1190Ser)
n.2361C>A
c.3490C>A (p.Arg1164Ser)
n.3553C>A
c.*1043C>A (n.*1043C>A)
n.4304C>A
c.*734C>A (n.*734C>A)
c.*1800C>A (n.*1800C>A)
n.4429C>A
c.2626C>A (p.Arg876Ser)
c.3385C>A (p.Arg1129Ser)
c.*3090C>A (n.*3090C>A)
n.3236C>A
c.*3168C>A (n.*3168C>A)
n.327C>A
c.3475C>A (p.Arg1159Ser)
c.3433C>A (p.Arg1145Ser)
c.3697C>A (p.Arg1233Ser)
c.3619C>A (p.Arg1207Ser)
c.3586C>A (p.Arg1196Ser)
c.3595C>A (p.Arg1199Ser)
c.2605C>A (p.Arg869Ser)
1g.154584920G>ACA1130920ADARc.3461C>T (n.3461C>T)
c.3597C>T (p.Ala1199=)
c.3450C>T (p.Ala1150=)
c.3219C>T (p.Ala1073=)
c.2682C>T (p.Ala894=)
c.3567C>T (p.Ala1189=)
n.2360C>T
c.3489C>T (p.Ala1163=)
n.3552C>T
c.*1042C>T (n.*1042C>T)
n.4303C>T
c.*733C>T (n.*733C>T)
c.*1799C>T (n.*1799C>T)
n.4428C>T
c.2625C>T (p.Ala875=)
c.3384C>T (p.Ala1128=)
c.*3089C>T (n.*3089C>T)
n.3235C>T
c.*3167C>T (n.*3167C>T)
n.326C>T
c.3474C>T (p.Ala1158=)
c.3432C>T (p.Ala1144=)
c.3696C>T (p.Ala1232=)
c.3618C>T (p.Ala1206=)
c.3585C>T (p.Ala1195=)
c.3594C>T (p.Ala1198=)
c.2604C>T (p.Ala868=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154584920G>CCA421231454ADARc.3461C>G (n.3461C>G)
c.3597C>G (p.Ala1199=)
c.3450C>G (p.Ala1150=)
c.3219C>G (p.Ala1073=)
c.2682C>G (p.Ala894=)
c.3567C>G (p.Ala1189=)
n.2360C>G
c.3489C>G (p.Ala1163=)
n.3552C>G
c.*1042C>G (n.*1042C>G)
n.4303C>G
c.*733C>G (n.*733C>G)
c.*1799C>G (n.*1799C>G)
n.4428C>G
c.2625C>G (p.Ala875=)
c.3384C>G (p.Ala1128=)
c.*3089C>G (n.*3089C>G)
n.3235C>G
c.*3167C>G (n.*3167C>G)
n.326C>G
c.3474C>G (p.Ala1158=)
c.3432C>G (p.Ala1144=)
c.3696C>G (p.Ala1232=)
c.3618C>G (p.Ala1206=)
c.3585C>G (p.Ala1195=)
c.3594C>G (p.Ala1198=)
c.2604C>G (p.Ala868=)
 gnomAD v4
1g.154584920G=CA1143732040ADARc.3461C= (n.3461C=)
c.3597C= (p.Ala1199=)
c.3450C= (p.Ala1150=)
c.3219C= (p.Ala1073=)
c.2682C= (p.Ala894=)
c.3567C= (p.Ala1189=)
n.2360C=
c.3489C= (p.Ala1163=)
n.3552C=
c.*1042C= (n.*1042C=)
n.4303C=
c.*733C= (n.*733C=)
c.*1799C= (n.*1799C=)
n.4428C=
c.2625C= (p.Ala875=)
c.3384C= (p.Ala1128=)
c.*3089C= (n.*3089C=)
n.3235C=
c.*3167C= (n.*3167C=)
n.326C=
c.3474C= (p.Ala1158=)
c.3432C= (p.Ala1144=)
c.3696C= (p.Ala1232=)
c.3618C= (p.Ala1206=)
c.3585C= (p.Ala1195=)
c.3594C= (p.Ala1198=)
c.2604C= (p.Ala868=)
1g.154584920G>TCA421231455ADARc.3461C>A (n.3461C>A)
c.3597C>A (p.Ala1199=)
c.3450C>A (p.Ala1150=)
c.3219C>A (p.Ala1073=)
c.2682C>A (p.Ala894=)
c.3567C>A (p.Ala1189=)
n.2360C>A
c.3489C>A (p.Ala1163=)
n.3552C>A
c.*1042C>A (n.*1042C>A)
n.4303C>A
c.*733C>A (n.*733C>A)
c.*1799C>A (n.*1799C>A)
n.4428C>A
c.2625C>A (p.Ala875=)
c.3384C>A (p.Ala1128=)
c.*3089C>A (n.*3089C>A)
n.3235C>A
c.*3167C>A (n.*3167C>A)
n.326C>A
c.3474C>A (p.Ala1158=)
c.3432C>A (p.Ala1144=)
c.3696C>A (p.Ala1232=)
c.3618C>A (p.Ala1206=)
c.3585C>A (p.Ala1195=)
c.3594C>A (p.Ala1198=)
c.2604C>A (p.Ala868=)
1g.154584921G>ACA342634679ADARc.3460C>T (n.3460C>T)
c.3596C>T (p.Ala1199Val)
c.3449C>T (p.Ala1150Val)
c.3218C>T (p.Ala1073Val)
c.2681C>T (p.Ala894Val)
c.3566C>T (p.Ala1189Val)
n.2359C>T
c.3488C>T (p.Ala1163Val)
n.3551C>T
c.*1041C>T (n.*1041C>T)
n.4302C>T
c.*732C>T (n.*732C>T)
c.*1798C>T (n.*1798C>T)
n.4427C>T
c.2624C>T (p.Ala875Val)
c.3383C>T (p.Ala1128Val)
c.*3088C>T (n.*3088C>T)
n.3234C>T
c.*3166C>T (n.*3166C>T)
n.325C>T
c.3473C>T (p.Ala1158Val)
c.3431C>T (p.Ala1144Val)
c.3695C>T (p.Ala1232Val)
c.3617C>T (p.Ala1206Val)
c.3584C>T (p.Ala1195Val)
c.3593C>T (p.Ala1198Val)
c.2603C>T (p.Ala868Val)
 ClinVar
1g.154584921G>CCA342634680ADARc.3460C>G (n.3460C>G)
c.3596C>G (p.Ala1199Gly)
c.3449C>G (p.Ala1150Gly)
c.3218C>G (p.Ala1073Gly)
c.2681C>G (p.Ala894Gly)
c.3566C>G (p.Ala1189Gly)
n.2359C>G
c.3488C>G (p.Ala1163Gly)
n.3551C>G
c.*1041C>G (n.*1041C>G)
n.4302C>G
c.*732C>G (n.*732C>G)
c.*1798C>G (n.*1798C>G)
n.4427C>G
c.2624C>G (p.Ala875Gly)
c.3383C>G (p.Ala1128Gly)
c.*3088C>G (n.*3088C>G)
n.3234C>G
c.*3166C>G (n.*3166C>G)
n.325C>G
c.3473C>G (p.Ala1158Gly)
c.3431C>G (p.Ala1144Gly)
c.3695C>G (p.Ala1232Gly)
c.3617C>G (p.Ala1206Gly)
c.3584C>G (p.Ala1195Gly)
c.3593C>G (p.Ala1198Gly)
c.2603C>G (p.Ala868Gly)
1g.154584921G>TCA342634681ADARc.3460C>A (n.3460C>A)
c.3596C>A (p.Ala1199Asp)
c.3449C>A (p.Ala1150Asp)
c.3218C>A (p.Ala1073Asp)
c.2681C>A (p.Ala894Asp)
c.3566C>A (p.Ala1189Asp)
n.2359C>A
c.3488C>A (p.Ala1163Asp)
n.3551C>A
c.*1041C>A (n.*1041C>A)
n.4302C>A
c.*732C>A (n.*732C>A)
c.*1798C>A (n.*1798C>A)
n.4427C>A
c.2624C>A (p.Ala875Asp)
c.3383C>A (p.Ala1128Asp)
c.*3088C>A (n.*3088C>A)
n.3234C>A
c.*3166C>A (n.*3166C>A)
n.325C>A
c.3473C>A (p.Ala1158Asp)
c.3431C>A (p.Ala1144Asp)
c.3695C>A (p.Ala1232Asp)
c.3617C>A (p.Ala1206Asp)
c.3584C>A (p.Ala1195Asp)
c.3593C>A (p.Ala1198Asp)
c.2603C>A (p.Ala868Asp)
1g.154584922C>ACA342634682ADARc.3459G>T (n.3459G>T)
c.3595G>T (p.Ala1199Ser)
c.3448G>T (p.Ala1150Ser)
c.3217G>T (p.Ala1073Ser)
c.2680G>T (p.Ala894Ser)
c.3565G>T (p.Ala1189Ser)
n.2358G>T
c.3487G>T (p.Ala1163Ser)
n.3550G>T
c.*1040G>T (n.*1040G>T)
n.4301G>T
c.*731G>T (n.*731G>T)
c.*1797G>T (n.*1797G>T)
n.4426G>T
c.2623G>T (p.Ala875Ser)
c.3382G>T (p.Ala1128Ser)
c.*3087G>T (n.*3087G>T)
n.3233G>T
c.*3165G>T (n.*3165G>T)
n.324G>T
c.3472G>T (p.Ala1158Ser)
c.3430G>T (p.Ala1144Ser)
c.3694G>T (p.Ala1232Ser)
c.3616G>T (p.Ala1206Ser)
c.3583G>T (p.Ala1195Ser)
c.3592G>T (p.Ala1198Ser)
c.2602G>T (p.Ala868Ser)
1g.154584922C>GCA342634684ADARc.3459G>C (n.3459G>C)
c.3595G>C (p.Ala1199Pro)
c.3448G>C (p.Ala1150Pro)
c.3217G>C (p.Ala1073Pro)
c.2680G>C (p.Ala894Pro)
c.3565G>C (p.Ala1189Pro)
n.2358G>C
c.3487G>C (p.Ala1163Pro)
n.3550G>C
c.*1040G>C (n.*1040G>C)
n.4301G>C
c.*731G>C (n.*731G>C)
c.*1797G>C (n.*1797G>C)
n.4426G>C
c.2623G>C (p.Ala875Pro)
c.3382G>C (p.Ala1128Pro)
c.*3087G>C (n.*3087G>C)
n.3233G>C
c.*3165G>C (n.*3165G>C)
n.324G>C
c.3472G>C (p.Ala1158Pro)
c.3430G>C (p.Ala1144Pro)
c.3694G>C (p.Ala1232Pro)
c.3616G>C (p.Ala1206Pro)
c.3583G>C (p.Ala1195Pro)
c.3592G>C (p.Ala1198Pro)
c.2602G>C (p.Ala868Pro)
1g.154584922C>TCA342634683ADARc.3459G>A (n.3459G>A)
c.3595G>A (p.Ala1199Thr)
c.3448G>A (p.Ala1150Thr)
c.3217G>A (p.Ala1073Thr)
c.2680G>A (p.Ala894Thr)
c.3565G>A (p.Ala1189Thr)
n.2358G>A
c.3487G>A (p.Ala1163Thr)
n.3550G>A
c.*1040G>A (n.*1040G>A)
n.4301G>A
c.*731G>A (n.*731G>A)
c.*1797G>A (n.*1797G>A)
n.4426G>A
c.2623G>A (p.Ala875Thr)
c.3382G>A (p.Ala1128Thr)
c.*3087G>A (n.*3087G>A)
n.3233G>A
c.*3165G>A (n.*3165G>A)
n.324G>A
c.3472G>A (p.Ala1158Thr)
c.3430G>A (p.Ala1144Thr)
c.3694G>A (p.Ala1232Thr)
c.3616G>A (p.Ala1206Thr)
c.3583G>A (p.Ala1195Thr)
c.3592G>A (p.Ala1198Thr)
c.2602G>A (p.Ala868Thr)
1g.154584923A>CCA421231459ADARc.3458T>G (n.3458T>G)
c.3594T>G (p.Ala1198=)
c.3447T>G (p.Ala1149=)
c.3216T>G (p.Ala1072=)
c.2679T>G (p.Ala893=)
c.3564T>G (p.Ala1188=)
n.2357T>G
c.3486T>G (p.Ala1162=)
n.3549T>G
c.*1039T>G (n.*1039T>G)
n.4300T>G
c.*730T>G (n.*730T>G)
c.*1796T>G (n.*1796T>G)
n.4425T>G
c.2622T>G (p.Ala874=)
c.3381T>G (p.Ala1127=)
c.*3086T>G (n.*3086T>G)
n.3232T>G
c.*3164T>G (n.*3164T>G)
n.323T>G
c.3471T>G (p.Ala1157=)
c.3429T>G (p.Ala1143=)
c.3693T>G (p.Ala1231=)
c.3615T>G (p.Ala1205=)
c.3582T>G (p.Ala1194=)
c.3591T>G (p.Ala1197=)
c.2601T>G (p.Ala867=)
1g.154584923A>GCA421231460ADARc.3458T>C (n.3458T>C)
c.3594T>C (p.Ala1198=)
c.3447T>C (p.Ala1149=)
c.3216T>C (p.Ala1072=)
c.2679T>C (p.Ala893=)
c.3564T>C (p.Ala1188=)
n.2357T>C
c.3486T>C (p.Ala1162=)
n.3549T>C
c.*1039T>C (n.*1039T>C)
n.4300T>C
c.*730T>C (n.*730T>C)
c.*1796T>C (n.*1796T>C)
n.4425T>C
c.2622T>C (p.Ala874=)
c.3381T>C (p.Ala1127=)
c.*3086T>C (n.*3086T>C)
n.3232T>C
c.*3164T>C (n.*3164T>C)
n.323T>C
c.3471T>C (p.Ala1157=)
c.3429T>C (p.Ala1143=)
c.3693T>C (p.Ala1231=)
c.3615T>C (p.Ala1205=)
c.3582T>C (p.Ala1194=)
c.3591T>C (p.Ala1197=)
c.2601T>C (p.Ala867=)
 ClinVar
1g.154584923A>TCA421231461ADARc.3458T>A (n.3458T>A)
c.3594T>A (p.Ala1198=)
c.3447T>A (p.Ala1149=)
c.3216T>A (p.Ala1072=)
c.2679T>A (p.Ala893=)
c.3564T>A (p.Ala1188=)
n.2357T>A
c.3486T>A (p.Ala1162=)
n.3549T>A
c.*1039T>A (n.*1039T>A)
n.4300T>A
c.*730T>A (n.*730T>A)
c.*1796T>A (n.*1796T>A)
n.4425T>A
c.2622T>A (p.Ala874=)
c.3381T>A (p.Ala1127=)
c.*3086T>A (n.*3086T>A)
n.3232T>A
c.*3164T>A (n.*3164T>A)
n.323T>A
c.3471T>A (p.Ala1157=)
c.3429T>A (p.Ala1143=)
c.3693T>A (p.Ala1231=)
c.3615T>A (p.Ala1205=)
c.3582T>A (p.Ala1194=)
c.3591T>A (p.Ala1197=)
c.2601T>A (p.Ala867=)
1g.154584924G>ACA342634685ADARc.3457C>T (n.3457C>T)
c.3593C>T (p.Ala1198Val)
c.3446C>T (p.Ala1149Val)
c.3215C>T (p.Ala1072Val)
c.2678C>T (p.Ala893Val)
c.3563C>T (p.Ala1188Val)
n.2356C>T
c.3485C>T (p.Ala1162Val)
n.3548C>T
c.*1038C>T (n.*1038C>T)
n.4299C>T
c.*729C>T (n.*729C>T)
c.*1795C>T (n.*1795C>T)
n.4424C>T
c.2621C>T (p.Ala874Val)
c.3380C>T (p.Ala1127Val)
c.*3085C>T (n.*3085C>T)
n.3231C>T
c.*3163C>T (n.*3163C>T)
n.322C>T
c.3470C>T (p.Ala1157Val)
c.3428C>T (p.Ala1143Val)
c.3692C>T (p.Ala1231Val)
c.3614C>T (p.Ala1205Val)
c.3581C>T (p.Ala1194Val)
c.3590C>T (p.Ala1197Val)
c.2600C>T (p.Ala867Val)
 gnomAD v4
1g.154584924G>CCA342634686ADARc.3457C>G (n.3457C>G)
c.3593C>G (p.Ala1198Gly)
c.3446C>G (p.Ala1149Gly)
c.3215C>G (p.Ala1072Gly)
c.2678C>G (p.Ala893Gly)
c.3563C>G (p.Ala1188Gly)
n.2356C>G
c.3485C>G (p.Ala1162Gly)
n.3548C>G
c.*1038C>G (n.*1038C>G)
n.4299C>G
c.*729C>G (n.*729C>G)
c.*1795C>G (n.*1795C>G)
n.4424C>G
c.2621C>G (p.Ala874Gly)
c.3380C>G (p.Ala1127Gly)
c.*3085C>G (n.*3085C>G)
n.3231C>G
c.*3163C>G (n.*3163C>G)
n.322C>G
c.3470C>G (p.Ala1157Gly)
c.3428C>G (p.Ala1143Gly)
c.3692C>G (p.Ala1231Gly)
c.3614C>G (p.Ala1205Gly)
c.3581C>G (p.Ala1194Gly)
c.3590C>G (p.Ala1197Gly)
c.2600C>G (p.Ala867Gly)
1g.154584924G>TCA342634687ADARc.3457C>A (n.3457C>A)
c.3593C>A (p.Ala1198Asp)
c.3446C>A (p.Ala1149Asp)
c.3215C>A (p.Ala1072Asp)
c.2678C>A (p.Ala893Asp)
c.3563C>A (p.Ala1188Asp)
n.2356C>A
c.3485C>A (p.Ala1162Asp)
n.3548C>A
c.*1038C>A (n.*1038C>A)
n.4299C>A
c.*729C>A (n.*729C>A)
c.*1795C>A (n.*1795C>A)
n.4424C>A
c.2621C>A (p.Ala874Asp)
c.3380C>A (p.Ala1127Asp)
c.*3085C>A (n.*3085C>A)
n.3231C>A
c.*3163C>A (n.*3163C>A)
n.322C>A
c.3470C>A (p.Ala1157Asp)
c.3428C>A (p.Ala1143Asp)
c.3692C>A (p.Ala1231Asp)
c.3614C>A (p.Ala1205Asp)
c.3581C>A (p.Ala1194Asp)
c.3590C>A (p.Ala1197Asp)
c.2600C>A (p.Ala867Asp)

Number of alleles fetched